(used for variant description)
(last modified August 6, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_181678.2 in the PPP2R2B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_011570.1, covering PPP2R2B transcript NM_181678.2.
(upstream sequence)
. . . g.5035
agtcacacaggggatgactgcaagtccttcgtaac c.-241
. . . . . . g.5095
cactccaggacgctgccagggcctgagaagggacaaactccaattgctccagttcaaact c.-181
. . . . . . | 02 g.5340
ggtcctggcctggtcaaacggaggagacagagcagtgattcacagcaggacgtg | gaattg c.-121
. . . . . . g.5400
ggacactcacccaggacacactatggtgcttcagccaagtgaaaggcactatcgagattg c.-61
. . | 03 . . . . g.229935
gaaccacagaag | gagccaagggagaacccaagacagagaatagtggcccaataatgaagc c.-1
. . . | 04. . . g.385351
ATGAATTATCCAGATGAAAACACCTATGGAAATAAAG | CTGACATTATCTCTACGGTAGAA c.60
M N Y P D E N T Y G N K A | D I I S T V E p.20
. . . . . . g.385411
TTCAACCACACGGGAGAATTACTAGCGACAGGGGACAAGGGGGGTCGGGTTGTAATATTT c.120
F N H T G E L L A T G D K G G R V V I F p.40
. | 05 . . . . . g.388371
CAACGAGAGCAGGAG | AGTAAAAATCAGGTTCATCGTAGGGGTGAATACAATGTTTACAGC c.180
Q R E Q E | S K N Q V H R R G E Y N V Y S p.60
. . . . . . g.388431
ACATTCCAGAGCCATGAACCCGAGTTCGATTACCTGAAGAGTTTAGAAATAGAAGAAAAA c.240
T F Q S H E P E F D Y L K S L E I E E K p.80
. . . . . . g.388491
ATCAATAAAATAAGATGGCTCCCCCAGCAGAATGCAGCTTACTTTCTTCTGTCTACTAAT c.300
I N K I R W L P Q Q N A A Y F L L S T N p.100
| 06 . . . . . . g.395289
G | ATAAAACTGTGAAGCTGTGGAAAGTCAGCGAGCGTGATAAGAGGCCAGAAGGCTACAAT c.360
D | K T V K L W K V S E R D K R P E G Y N p.120
. . . . . | 07 . g.435752
CTGAAAGATGAGGAGGGCCGGCTCCGGGATCCTGCCACCATCACAACCCTGCGG | GTGCCT c.420
L K D E E G R L R D P A T I T T L R | V P p.140
. . . . . . g.435812
GTCCTGAGACCCATGGACCTGATGGTGGAGGCCACCCCACGAAGAGTATTTGCCAACGCA c.480
V L R P M D L M V E A T P R R V F A N A p.160
. . . . . . g.435872
CACACATATCACATCAACTCCATATCTGTCAACAGCGACTATGAAACCTACATGTCCGCT c.540
H T Y H I N S I S V N S D Y E T Y M S A p.180
. . . . . | 08 . g.448063
GATGACCTGAGGATTAACCTATGGAACTTTGAAATAACCAATCAAAGTTTTA | ATATTGTG c.600
D D L R I N L W N F E I T N Q S F N | I V p.200
. . . . . . g.448123
GACATTAAGCCAGCCAACATGGAGGAGCTCACGGAGGTGATCACAGCAGCCGAGTTCCAC c.660
D I K P A N M E E L T E V I T A A E F H p.220
. . . . . . g.448183
CCCCATCATTGCAACACCTTCGTGTACAGCAGCAGCAAAGGGACAATCCGGCTGTGTGAC c.720
P H H C N T F V Y S S S K G T I R L C D p.240
. . . | 09. . . g.486033
ATGCGGGCATCTGCCCTGTGTGACAGGCACACCAAAT | TTTTTGAAGAGCCGGAAGATCCA c.780
M R A S A L C D R H T K F | F E E P E D P p.260
. . . . . . g.486093
AGCAACAGATCATTTTTCTCTGAAATTATCTCTTCGATTTCGGATGTGAAGTTCAGCCAC c.840
S N R S F F S E I I S S I S D V K F S H p.280
. . . . . . g.486153
AGTGGGAGGTATATCATGACCAGGGACTACTTGACCGTCAAAGTCTGGGATCTCAACATG c.900
S G R Y I M T R D Y L T V K V W D L N M p.300
. . | 10. . . . g.493441
GAAAACCGCCCCATCGAGACTTACCAG | GTTCATGACTACCTCCGCAGCAAGCTGTGTTCC c.960
E N R P I E T Y Q | V H D Y L R S K L C S p.320
. . . . . | 11 g.496245
CTCTATGAAAATGACTGCATTTTTGATAAATTTGAGTGTGTGTGGAATGGGTCAGACAG | T c.1020
L Y E N D C I F D K F E C V W N G S D S | p.340
. . . . . . g.496305
GTCATCATGACAGGCTCCTACAACAACTTCTTCAGGATGTTCGACAGAAACACCAAGCGT c.1080
V I M T G S Y N N F F R M F D R N T K R p.360
. . . . . . g.496365
GATGTGACCCTTGAGGCTTCGAGGGAAAACAGCAAGCCCCGGGCTATCCTCAAACCCCGA c.1140
D V T L E A S R E N S K P R A I L K P R p.380
. . . . . . g.496425
AAAGTGTGTGTGGGGGGCAAGCGGAGAAAAGACGAGATCAGTGTCGACAGTCTGGACTTT c.1200
K V C V G G K R R K D E I S V D S L D F p.400
. . . . . . g.496485
AGCAAAAAGATCTTGCATACAGCTTGGCATCCTTCAGAAAATATTATAGCAGTGGCGGCT c.1260
S K K I L H T A W H P S E N I I A V A A p.420
. . . g.496524
ACAAATAACCTATATATATTCCAGGACAAGGTTAACTAG c.1299
T N N L Y I F Q D K V N X p.432
. . . . . . g.496584
gtggacaagttattacttaataatctcacatactgaatactagtcaaacaagtttttaaa c.*60
. . . . . . g.496644
tgtttctttgggtcttcatttgatgcattgactttaatttccctatacaggaaatgattg c.*120
. . . . . . g.496704
gaatagaattaaaaggagtccaacattcccagctccccagttctaagaaacttttgtcaa c.*180
. . . . . . g.496764
acccaataggtttgggacacttctgtttagaattgaaagctgccagctaacagtaattct c.*240
. . . . . . g.496824
tccatagttgacttgaacttctgatgcttttattgcccagttttctctggtgggtccagt c.*300
. . . . . . g.496884
gttttgttcctaggtgtctgctgcgataaaatgaggttgtctgtagtatttaaggagaaa c.*360
. . . . . . g.496944
agagataagttttttttaattaagcaattccatttgattgaaaaaaatcaacaaaaaata c.*420
. . g.496967
aacaccgtttactcttagacaaa c.*443
(downstream sequence)
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