(used for variant description)
(last modified March 20, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_004530.4 in the MMP2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering MMP2 transcript NM_004530.4.
(upstream sequence)
. g.5011
acatctggcgg c.-301
. . . . . . g.5071
ctgccctcccttgtttccgctgcatccagacttcctcaggcggtggctggaggctgcgca c.-241
. . . . . . g.5131
tctggggctttaaacatacaaagggattgccaggacctgcggcggcggcggcggcggcgg c.-181
. . . . . . g.5191
gggctggggcgcgggggccggaccatgagccgctgagccgggcaaaccccaggccaccga c.-121
. . . . . . g.5251
gccagcggaccctcggagcgcagccctgcgccgcggagcaggctccaaccaggcggcgag c.-61
. . . . . . g.5311
gcggccacacgcaccgagccagcgacccccgggcgacgcgcggggccagggagcgctacg c.-1
. . . . . . g.5371
ATGGAGGCGCTAATGGCCCGGGGCGCGCTCACGGGTCCCCTGAGGGCGCTCTGTCTCCTG c.60
M E A L M A R G A L T G P L R A L C L L p.20
. . . . . . g.5431
GGCTGCCTGCTGAGCCACGCCGCCGCCGCGCCGTCGCCCATCATCAAGTTCCCCGGCGAT c.120
G C L L S H A A A A P S P I I K F P G D p.40
. . . | 02 . . . g.8767
GTCGCCCCCAAAACGGACAAAGAGTTGGCAGTG | CAATACCTGAACACCTTCTATGGCTGC c.180
V A P K T D K E L A V | Q Y L N T F Y G C p.60
. . . . . . g.8827
CCCAAGGAGAGCTGCAACCTGTTTGTGCTGAAGGACACACTAAAGAAGATGCAGAAGTTC c.240
P K E S C N L F V L K D T L K K M Q K F p.80
. . . . . . g.8887
TTTGGACTGCCCCAGACAGGTGATCTTGACCAGAATACCATCGAGACCATGCGGAAGCCA c.300
F G L P Q T G D L D Q N T I E T M R K P p.100
. . . . . . g.8947
CGCTGCGGCAACCCAGATGTGGCCAACTACAACTTCTTCCCTCGCAAGCCCAAGTGGGAC c.360
R C G N P D V A N Y N F F P R K P K W D p.120
. . | 03 . . . . g.9887
AAGAACCAGATCACATACAG | GATCATTGGCTACACACCTGATCTGGACCCAGAGACAGTG c.420
K N Q I T Y R | I I G Y T P D L D P E T V p.140
. . . . . . g.9947
GATGATGCCTTTGCTCGTGCCTTCCAAGTCTGGAGCGATGTGACCCCACTGCGGTTTTCT c.480
D D A F A R A F Q V W S D V T P L R F S p.160
. . . . | 04 . g.11141
CGAATCCATGATGGAGAGGCAGACATCATGATCAACTTTGGCCGCTGGG | AGCATGGCGAT c.540
R I H D G E A D I M I N F G R W E | H G D p.180
. . . . . . g.11201
GGATACCCCTTTGACGGTAAGGACGGACTCCTGGCTCATGCCTTCGCCCCAGGCACTGGT c.600
G Y P F D G K D G L L A H A F A P G T G p.200
. . . . . | 05 g.11437
GTTGGGGGAGACTCCCATTTTGATGACGATGAGCTATGGACCTTGGGAGAAGGCCAAG | TG c.660
V G G D S H F D D D E L W T L G E G Q V | p.220
. . . . . . g.11497
GTCCGTGTGAAGTATGGGAACGCCGATGGGGAGTACTGCAAGTTCCCCTTCTTGTTCAAT c.720
V R V K Y G N A D G E Y C K F P F L F N p.240
. . . . . . g.11557
GGCAAGGAGTACAACAGCTGCACTGATACCGGCCGCAGCGATGGCTTCCTCTGGTGCTCC c.780
G K E Y N S C T D T G R S D G F L W C S p.260
. . . . . | 06 . g.14382
ACCACCTACAACTTTGAGAAGGATGGCAAGTACGGCTTCTGTCCCCATGAAG | CCCTGTTC c.840
T T Y N F E K D G K Y G F C P H E A | L F p.280
. . . . . . g.14442
ACCATGGGCGGCAACGCTGAAGGACAGCCCTGCAAGTTTCCATTCCGCTTCCAGGGCACA c.900
T M G G N A E G Q P C K F P F R F Q G T p.300
. . . . . . g.14502
TCCTATGACAGCTGCACCACTGAGGGCCGCACGGATGGCTACCGCTGGTGCGGCACCACT c.960
S Y D S C T T E G R T D G Y R W C G T T p.320
. . . . | 07 . . g.15496
GAGGACTACGACCGCGACAAGAAGTATGGCTTCTGCCCTGAGACCG | CCATGTCCACTGTT c.1020
E D Y D R D K K Y G F C P E T A | M S T V p.340
. . . . . . g.15556
GGTGGGAACTCAGAAGGTGCCCCCTGTGTCTTCCCCTTCACTTTCCTGGGCAACAAATAT c.1080
G G N S E G A P C V F P F T F L G N K Y p.360
. . . . . . g.15616
GAGAGCTGCACCAGCGCCGGCCGCAGTGACGGAAAGATGTGGTGTGCGACCACAGCCAAC c.1140
E S C T S A G R S D G K M W C A T T A N p.380
. . . . | 08 . . g.17652
TACGATGATGACCGCAAGTGGGGCTTCTGCCCTGACCAAG | GGTACAGCCTGTTCCTCGTG c.1200
Y D D D R K W G F C P D Q G | Y S L F L V p.400
. . . . . . g.17712
GCAGCCCACGAGTTTGGCCACGCCATGGGGCTGGAGCACTCCCAAGACCCTGGGGCCCTG c.1260
A A H E F G H A M G L E H S Q D P G A L p.420
. . . . . . g.17772
ATGGCACCCATTTACACCTACACCAAGAACTTCCGTCTGTCCCAGGATGACATCAAGGGC c.1320
M A P I Y T Y T K N F R L S Q D D I K G p.440
. | 09 . . . . . g.19033
ATTCAGGAGCTCTATG | GGGCCTCTCCTGACATTGACCTTGGCACCGGCCCCACCCCCACG c.1380
I Q E L Y G | A S P D I D L G T G P T P T p.460
. . . . . . g.19093
CTGGGCCCTGTCACTCCTGAGATCTGCAAACAGGACATTGTATTTGATGGCATCGCTCAG c.1440
L G P V T P E I C K Q D I V F D G I A Q p.480
. . . | 10 . . . g.22785
ATCCGTGGTGAGATCTTCTTCTTCAAGGACCG | GTTCATTTGGCGGACTGTGACGCCACGT c.1500
I R G E I F F F K D R | F I W R T V T P R p.500
. . . . . . g.22845
GACAAGCCCATGGGGCCCCTGCTGGTGGCCACATTCTGGCCTGAGCTCCCGGAAAAGATT c.1560
D K P M G P L L V A T F W P E L P E K I p.520
. . . . | 11 . g.24131
GATGCGGTATACGAGGCCCCACAGGAGGAGAAGGCTGTGTTCTTTGCAG | GGAATGAATAC c.1620
D A V Y E A P Q E E K A V F F A G | N E Y p.540
. . . . . . g.24191
TGGATCTACTCAGCCAGCACCCTGGAGCGAGGGTACCCCAAGCCACTGACCAGCCTGGGA c.1680
W I Y S A S T L E R G Y P K P L T S L G p.560
. . . . . . g.24251
CTGCCCCCTGATGTCCAGCGAGTGGATGCCGCCTTTAACTGGAGCAAAAACAAGAAGACA c.1740
L P P D V Q R V D A A F N W S K N K K T p.580
. . | 12 . . . g.28641
TACATCTTTGCTGGAGACAAATTCTGGAG | ATACAATGAGGTGAAGAAGAAAATGGATCCT c.1800
Y I F A G D K F W R | Y N E V K K K M D P p.600
. . . . . . g.28701
GGCTTCCCCAAGCTCATCGCAGATGCCTGGAATGCCATCCCCGATAACCTGGATGCCGTC c.1860
G F P K L I A D A W N A I P D N L D A V p.620
. | 13 . . . . g.31211
GTGGACCTGCAGGGCGGCG | GTCACAGCTACTTCTTCAAGGGTGCCTATTACCTGAAGCTG c.1920
V D L Q G G G | H S Y F F K G A Y Y L K L p.640
. . . . . . g.31271
GAGAACCAAAGTCTGAAGAGCGTGAAGTTTGGAAGCATCAAATCCGACTGGCTAGGCTGC c.1980
E N Q S L K S V K F G S I K S D W L G C p.660
g.31274
TGA c.1983
X p.660
. . . . . . g.31334
gctggccctggctcccacaggcccttcctctccactgccttcgatacaccgggcctggag c.*60
. . . . . . g.31394
aactagagaaggacccggaggggcctggcagccgtgccttcagctctacagctaatcagc c.*120
. . . . . . g.31454
attctcactcctacctggtaatttaagattccagagagtggctcctcccggtgcccaaga c.*180
. . . . . . g.31514
atagatgctgactgtactcctcccaggcgccccttccccctccaatcccaccaaccctca c.*240
. . . . . . g.31574
gagccacccctaaagagatactttgatattttcaacgcagccctgctttgggctgccctg c.*300
. . . . . . g.31634
gtgctgccacacttcaggctcttctcctttcacaaccttctgtggctcacagaacccttg c.*360
. . . . . . g.31694
gagccaatggagactgtctcaagagggcactggtggcccgacagcctggcacagggcagt c.*420
. . . . . . g.31754
gggacagggcatggccaggtggccactccagacccctggcttttcactgctggctgcctt c.*480
. . . . . . g.31814
agaacctttcttacattagcagtttgctttgtatgcactttgtttttttctttgggtctt c.*540
. . . . . . g.31874
gttttttttttccacttagaaattgcatttcctgacagaaggactcaggttgtctgaagt c.*600
. . . . . . g.31934
cactgcacagtgcatctcagcccacatagtgatggttcccctgttcactctacttagcat c.*660
. . . . . . g.31994
gtccctaccgagtctcttctccactggatggaggaaaaccaagccgtggcttcccgctca c.*720
. . . . . . g.32054
gccctccctgcccctcccttcaaccattccccatgggaaatgtcaacaagtatgaataaa c.*780
. . . . . . g.32114
gacacctactgagtggccgtgtttgccatctgttttagcagagcctagacaagggccaca c.*840
. . . . . . g.32174
gacccagccagaagcggaaacttaaaaagtccgaatctctgctccctgcagggcacaggt c.*900
. . . . . . g.32234
gatggtgtctgctggaaaggtcagagcttccaaagtaaacagcaagagaacctcagggag c.*960
. . . . . . g.32294
agtaagctctagtccctctgtcctgtagaaagagccctgaagaatcagcaattttgttgc c.*1020
. . . . . . g.32354
tttattgtggcatctgttcgaggtttgcttcctctttaagtctgtttcttcattagcaat c.*1080
. . . . . . g.32414
catatcagttttaatgctactactaacaatgaacagtaacaataatatccccctcaatta c.*1140
. . . . . . g.32474
atagagtgctttctatgtgcaaggcacttttcacgtgtcacctattttaacctttccaac c.*1200
. . . g.32506
cacataaataaaaaaggccattattagttgaa c.*1232
(downstream sequence)
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