(used for variant description)
(last modified February 2, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000767.4 in the CYP2B6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007929.1, covering CYP2B6 transcript NM_000767.4.
(upstream sequence)
g.5007
caggacc c.-1
. . . . . . g.5067
ATGGAACTCAGCGTCCTCCTCTTCCTTGCACTCCTCACAGGACTCTTGCTACTCCTGGTT c.60
M E L S V L L F L A L L T G L L L L L V p.20
. . . . . . g.5127
CAGCGCCACCCTAACACCCATGACCGCCTCCCACCAGGGCCCCGCCCTCTGCCCCTTTTG c.120
Q R H P N T H D R L P P G P R P L P L L p.40
. . . . . | 02 . g.17711
GGAAACCTTCTGCAGATGGATAGAAGAGGCCTACTCAAATCCTTTCTGAGG | TTCCGAGAG c.180
G N L L Q M D R R G L L K S F L R | F R E p.60
. . . . . . g.17771
AAATATGGGGACGTCTTCACGGTACACCTGGGACCGAGGCCCGTGGTCATGCTGTGTGGA c.240
K Y G D V F T V H L G P R P V V M L C G p.80
. . . . . . g.17831
GTAGAGGCCATACGGGAGGCCCTTGTGGACAAGGCTGAGGCCTTCTCTGGCCGGGGAAAA c.300
V E A I R E A L V D K A E A F S G R G K p.100
. . . | 03 . . . g.18024
ATCGCCATGGTCGACCCATTCTTCCGGGGATATG | GTGTGATCTTTGCCAATGGAAACCGC c.360
I A M V D P F F R G Y G | V I F A N G N R p.120
. . . . . . g.18084
TGGAAGGTGCTTCGGCGATTCTCTGTGACCACTATGAGGGACTTCGGGATGGGAAAGCGG c.420
W K V L R R F S V T T M R D F G M G K R p.140
. . . . . . g.18144
AGTGTGGAGGAGCGGATTCAGGAGGAGGCTCAGTGTCTGATAGAGGAGCTTCGGAAATCC c.480
S V E E R I Q E E A Q C L I E E L R K S p.160
| 04 . . . . . . g.20662
AAGG | GGGCCCTCATGGACCCCACCTTCCTCTTCCAGTCCATTACCGCCAACATCATCTGC c.540
K G | A L M D P T F L F Q S I T A N I I C p.180
. . . . . . g.20722
TCCATCGTCTTTGGAAAACGATTCCACTACCAAGATCAAGAGTTCCTGAAGATGCTGAAC c.600
S I V F G K R F H Y Q D Q E F L K M L N p.200
. . . . | 05 . . g.22935
TTGTTCTACCAGACTTTTTCACTCATCAGCTCTGTATTCGGCCAG | CTGTTTGAGCTCTTC c.660
L F Y Q T F S L I S S V F G Q | L F E L F p.220
. . . . . . g.22995
TCTGGCTTCTTGAAATACTTTCCTGGGGCACACAGGCAAGTTTACAAAAACCTGCAGGAA c.720
S G F L K Y F P G A H R Q V Y K N L Q E p.240
. . . . . . g.23055
ATCAATGCTTACATTGGCCACAGTGTGGAGAAGCACCGTGAAACCCTGGACCCCAGCGCC c.780
I N A Y I G H S V E K H R E T L D P S A p.260
. . . . | 06 . . g.23713
CCCAAGGACCTCATCGACACCTACCTGCTCCACATGGAAAAA | GAGAAATCCAACGCACAC c.840
P K D L I D T Y L L H M E K | E K S N A H p.280
. . . . . . g.23773
AGTGAATTCAGCCACCAGAACCTCAACCTCAACACGCTCTCGCTCTTCTTTGCTGGCACT c.900
S E F S H Q N L N L N T L S L F F A G T p.300
. . . . . . g.23833
GAGACCACCAGCACCACTCTCCGCTACGGCTTCCTGCTCATGCTCAAATACCCTCATGTT c.960
E T T S T T L R Y G F L L M L K Y P H V p.320
| 07 . . . . . . g.26055
GCAG | AGAGAGTCTACAGGGAGATTGAACAGGTGATTGGCCCACATCGCCCTCCAGAGCTT c.1020
A E | R V Y R E I E Q V I G P H R P P E L p.340
. . . . . . g.26115
CATGACCGAGCCAAAATGCCATACACAGAGGCAGTCATCTATGAGATTCAGAGATTTTCC c.1080
H D R A K M P Y T E A V I Y E I Q R F S p.360
. . . . . . g.26175
GACCTTCTCCCCATGGGTGTGCCCCACATTGTCACCCAACACACCAGCTTCCGAGGGTAC c.1140
D L L P M G V P H I V T Q H T S F R G Y p.380
. | 08 . . . . . g.26423
ATCATCCCCAAG | GACACAGAAGTATTTCTCATCCTGAGCACTGCTCTCCATGACCCACAC c.1200
I I P K | D T E V F L I L S T A L H D P H p.400
. . . . . . g.26483
TACTTTGAAAAACCAGACGCCTTCAATCCTGACCACTTTCTGGATGCCAATGGGGCACTG c.1260
Y F E K P D A F N P D H F L D A N G A L p.420
. . . | 09 . . . g.30373
AAAAAGACTGAAGCTTTTATCCCCTTCTCCTTAG | GGAAGCGGATTTGTCTTGGTGAAGGC c.1320
K K T E A F I P F S L G | K R I C L G E G p.440
. . . . . . g.30433
ATCGCCCGTGCGGAATTGTTCCTCTTCTTCACCACCATCCTCCAGAACTTCTCCATGGCC c.1380
I A R A E L F L F F T T I L Q N F S M A p.460
. . . . . . g.30493
AGCCCCGTGGCCCCAGAAGACATCGATCTGACACCCCAGGAGTGTGGTGTGGGCAAAATA c.1440
S P V A P E D I D L T P Q E C G V G K I p.480
. . . g.30529
CCCCCAACATACCAGATCCGCTTCCTGCCCCGCTGA c.1476
P P T Y Q I R F L P R X p.491
. . . . . . g.30589
aggggctgagggaagggggtcaaaggattccagggtcattcagtgtccccgcctctgtag c.*60
. . . . . . g.30649
acaatggctctgactccccgcaacttcctgcctctgagagacctgctacaagccagcttc c.*120
. . . . . . g.30709
cttcccctccatggcaccagttgtctgaggtcacattgcaagtgagtgcaggagtgagat c.*180
. . . . . . g.30769
tatcgaaaattataatatacaaaatcatatatatatatatgttcttgttttttgagacag c.*240
. . . . . . g.30829
agtctcacactgttgcccaggctggagtgcagtggcgtgatctcggctcactgcaacctc c.*300
. . . . . . g.30889
cacccccggggatcaagcaactctcctgcctcagcctccctagtagctgggattacaggc c.*360
. . . . . . g.30949
atgcactaccacgcttggctaatttttgtatttttagtagagatggggtttcactgtgta c.*420
. . . . . . g.31009
ggccaggctggtctcgaactcctgaactcaagtgattcacccaccttagcctcccaaagt c.*480
. . . . . . g.31069
gctgggattacaggcgtgagtcaccgtgcccagccatgtatatatataattttaaaaatt c.*540
. . . . . . g.31129
aagctgaaattcacataacataaaattagctgttttaaagtgtaaaatttagtggcgtgt c.*600
. . . . . . g.31189
ggttcattcacaaagctgtacaaccaccaccatctagttccaaacattttctttttttct c.*660
. . . . . . g.31249
gagatggagtctcactctgtcacccaggttcgagttcagtggtgccatctctgtccactg c.*720
. . . . . . g.31309
caacctccacatcctgggttcaagtgattctcctgcctcagcctctggaggagctggtat c.*780
. . . . . . g.31369
cacaggcgtcccccaccacgcctggctaaattttgtatttttaggtggtcttgaactcct c.*840
. . . . . . g.31429
gatgtcaggtgattctcctagctccaaatgttttcattatctctcccccaacaaaaccca c.*900
. . . . . . g.31489
tacctatcaagctgtcactccccataccccattctctttttcatctcggcccctgtcaat c.*960
. . . . . . g.31549
ctggtttttgtcactatggacttaccaattctgaatatttcccataaacagaatcataca c.*1020
. . . . . . g.31609
atatttgattttttttttttttttgaaactaagccttgctctgtctcccaggctggagtg c.*1080
. . . . . . g.31669
ctatggtgcaatttttgttcactgcaacctctgccttccaagatcaagagattctccagt c.*1140
. . . . . . g.31729
ctcagctcccaagtagctgggattacaggcatgtactaccatgcctggctaattttcttg c.*1200
. . . . . . g.31789
tagttttagtagggacatgttggccaggctggtggtgagctcctggcctcaggtgatcca c.*1260
. . . . . . g.31849
cccacctcagtgttccaaagtgctgatattacaggcataatatgtgatcttttgtgtctg c.*1320
. . . . . . g.31909
gttgctttcatgttgaatgctatttttgaggttcatgcctgttgtagaccacagtcacac c.*1380
. . . . . . g.31969
actgctgtagtcttccccagtcctcattcccagctgcctcttcctactgcttccgtctat c.*1440
. . . . . . g.32029
caaaaagcccccttggcccaggttccctgagctgtgggattctgcactggtgctttggat c.*1500
. . . . . . g.32089
tccctgatatgttccttcaaatctgctgagaattaaataaacatctctaaagcctgacct c.*1560
g.32098
ccccacgtc c.*1569
(downstream sequence)
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