(used for variant description)
(last modified May 19, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_000500.7 in the CYP21A2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering CYP21A2 transcript NM_000500.7.
(upstream sequence)
. . . . g.5047
ctgaaggtggggtcaagggaggccccaaaacagtctacacagcagga c.-61
. . . . . . g.5107
gggatggctggggctcttgagctataagtggcacctcagggccctgacgggcgtctcgcc c.-1
. . . . . . g.5167
ATGCTGCTCCTGGGCCTGCTGCTGCTGCTGCCCCTGCTGGCTGGCGCCCGCCTGCTGTGG c.60
M L L L G L L L L L P L L A G A R L L W p.20
. . . . . . g.5227
AACTGGTGGAAGCTCCGGAGCCTCCACCTCCCGCCTCTTGCCCCGGGCTTCTTGCACCTG c.120
N W W K L R S L H L P P L A P G F L H L p.40
. . . . . . g.5287
CTGCAGCCCGACCTCCCCATCTATCTGCTTGGCCTGACTCAGAAATTCGGGCCCATCTAC c.180
L Q P D L P I Y L L G L T Q K F G P I Y p.60
. . | 02 . . . . g.5444
AGGCTCCACCTTGGGCTGCAAG | ATGTGGTGGTGCTGAACTCCAAGAGGACCATTGAGGAA c.240
R L H L G L Q D | V V V L N S K R T I E E p.80
. . . . . | 03 . g.5786
GCCATGGTCAAAAAGTGGGCAGACTTTGCTGGCAGACCTGAGCCACTTACCT | ACAAGCTG c.300
A M V K K W A D F A G R P E P L T Y | K L p.100
. . . . . . g.5846
GTGTCTAGGAACTACCCGGACCTGTCCTTGGGAGACTACTCCCTGCTCTGGAAAGCCCAC c.360
V S R N Y P D L S L G D Y S L L W K A H p.120
. . . . . . g.5906
AAGAAGCTCACCCGCTCAGCCCTGCTGCTGGGCATCCGTGACTCCATGGAGCCAGTGGTG c.420
K K L T R S A L L L G I R D S M E P V V p.140
. . | 04. . . . g.6073
GAGCAGCTGACCCAGGAGTTCTGTGAG | CGCATGAGAGCCCAGCCCGGCACCCCTGTGGCC c.480
E Q L T Q E F C E | R M R A Q P G T P V A p.160
. . . . . . g.6133
ATTGAGGAGGAATTCTCTCTCCTCACCTGCAGCATCATCTGTTACCTCACCTTCGGAGAC c.540
I E E E F S L L T C S I I C Y L T F G D p.180
| 05 . . . . . g.6281
AAGATCAAG | GACGACAACTTAATGCCTGCCTATTACAAATGTATCCAGGAGGTGTTAAAA c.600
K I K | D D N L M P A Y Y K C I Q E V L K p.200
. . . . . | 06 . g.6442
ACCTGGAGCCACTGGTCCATCCAAATTGTGGACGTGATTCCCTTTCTCAGG | TTCTTCCCC c.660
T W S H W S I Q I V D V I P F L R | F F P p.220
. . . . . . g.6502
AATCCAGGTCTCCGGAGGCTGAAGCAGGCCATAGAGAAGAGGGATCACATCGTGGAGATG c.720
N P G L R R L K Q A I E K R D H I V E M p.240
. | 07 . . . . g.6731
CAGCTGAGGCAGCACAAG | GAGAGCCTCGTGGCAGGCCAGTGGAGGGACATGATGGACTAC c.780
Q L R Q H K | E S L V A G Q W R D M M D Y p.260
. . . . . . g.6791
ATGCTCCAAGGGGTGGCGCAGCCGAGCATGGAAGAGGGCTCTGGACAGCTCCTGGAAGGG c.840
M L Q G V A Q P S M E E G S G Q L L E G p.280
. . . . . . g.6851
CACGTGCACATGGCTGCAGTGGACCTCCTGATCGGTGGCACTGAGACCACAGCAAACACC c.900
H V H M A A V D L L I G G T E T T A N T p.300
. . . | 08 . . g.7111
CTCTCCTGGGCCGTGGTTTTTTTGCTTCACCACCCTGAG | ATTCAGCAGCGACTGCAGGAG c.960
L S W A V V F L L H H P E | I Q Q R L Q E p.320
. . . . . . g.7171
GAGCTAGACCACGAACTGGGCCCTGGTGCCTCCAGCTCCCGGGTCCCCTACAAGGACCGT c.1020
E L D H E L G P G A S S S R V P Y K D R p.340
. . . . . . g.7231
GCACGGCTGCCCTTGCTCAATGCCACCATCGCCGAGGTGCTGCGCCTGCGGCCCGTTGTG c.1080
A R L P L L N A T I A E V L R L R P V V p.360
. . . | 09 . . g.7374
CCCTTAGCCTTGCCCCACCGCACCACACGGCCCAGCAG | CATCTCCGGCTACGACATCCCT c.1140
P L A L P H R T T R P S S | I S G Y D I P p.380
. . . . . . g.7434
GAGGGCACAGTCATCATTCCGAACCTCCAAGGCGCCCACCTGGATGAGACGGTCTGGGAG c.1200
E G T V I I P N L Q G A H L D E T V W E p.400
. . | 10 . . . . g.7591
AGGCCACATGAGTTCTGGCCTG | ATCGCTTCCTGGAGCCAGGCAAGAACTCCAGAGCTCTG c.1260
R P H E F W P D | R F L E P G K N S R A L p.420
. . . . . . g.7651
GCCTTCGGCTGCGGTGCCCGCGTGTGCCTGGGCGAGCCGCTGGCGCGCCTGGAGCTCTTC c.1320
A F G C G A R V C L G E P L A R L E L F p.440
. . . . . . g.7711
GTGGTGCTGACCCGACTGCTGCAGGCCTTCACGCTGCTGCCCTCCGGGGACGCCCTGCCC c.1380
V V L T R L L Q A F T L L P S G D A L P p.460
. . . . . . g.7771
TCCCTGCAGCCCCTGCCCCACTGCAGTGTCATCCTCAAGATGCAGCCTTTCCAAGTGCGG c.1440
S L Q P L P H C S V I L K M Q P F Q V R p.480
. . . . g.7819
CTGCAGCCCCGGGGGATGGGGGCCCACAGCCCGGGCCAGAGCCAGTGA c.1488
L Q P R G M G A H S P G Q S Q X p.495
. . . . . . g.7879
tggggcaggaccgatgccagccgggtacctcagtttctcctttattgctcccgtacgaac c.*60
. . . . . . g.7939
ccctcccctcccccctgtaaacacagtgctgcgagatcgctggcagagaaggcttcctcc c.*120
. . . . . . g.7999
agcggctgggtggtgaaggaccctggctcttctctcggggcgacccctcagtgctcggca c.*180
. . . . . . g.8059
gtcatactggggtgcgagagaggtgggcagcagctcagcctccccccgctggggagcgaa c.*240
. . . . . . g.8119
agtttcttggtctcagcttcatttccgtgaagggcaccgagaactcgaagcccttccagt c.*300
. . . . . . g.8179
ggtaccagctcactccctgggaaaggggttgtcaagagagagtcaaagccggatgtccca c.*360
. . . . . . g.8239
tctgctcttcccgttccccttaaggaggtagctcccagcactcaaccaacctccccgcag c.*420
. . . . . . g.8299
agctcccttcctgaccctccgctgcagaggattgaggcttaattctgagctggccctttc c.*480
. . . . . g.8355
cagccaataaatcaactccagctccctctgcgaggctggcatgattgttccatttc c.*536
(downstream sequence)
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