(used for variant description)
(last modified August 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_002187.2 in the IL12B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009618.1, covering IL12B transcript NM_002187.2.
(upstream sequence)
. . . . g.5042
ctgtttcagggccattggactctccgtcctgcccagagcaag c.-1
| 02 . . . . . . g.8751
| ATGTGTCACCAGCAGTTGGTCATCTCTTGGTTTTCCCTGGTTTTTCTGGCATCTCCCCTC c.60
| M C H Q Q L V I S W F S L V F L A S P L p.20
. . | 03 . . . g.12176
GTGGCCATATGGGAACTGAAGAAAGATG | TTTATGTCGTAGAATTGGATTGGTATCCGGAT c.120
V A I W E L K K D V | Y V V E L D W Y P D p.40
. . . . . . g.12236
GCCCCTGGAGAAATGGTGGTCCTCACCTGTGACACCCCTGAAGAAGATGGTATCACCTGG c.180
A P G E M V V L T C D T P E E D G I T W p.60
. . . . . . g.12296
ACCTTGGACCAGAGCAGTGAGGTCTTAGGCTCTGGCAAAACCCTGACCATCCAAGTCAAA c.240
T L D Q S S E V L G S G K T L T I Q V K p.80
. . . . . . g.12356
GAGTTTGGAGATGCTGGCCAGTACACCTGTCACAAAGGAGGCGAGGTTCTAAGCCATTCG c.300
E F G D A G Q Y T C H K G G E V L S H S p.100
. . . . . . g.12416
CTCCTGCTGCTTCACAAAAAGGAAGATGGAATTTGGTCCACTGATATTTTAAAGGACCAG c.360
L L L L H K K E D G I W S T D I L K D Q p.120
| 04 . . . . . . g.13018
AAAG | AACCCAAAAATAAGACCTTTCTAAGATGCGAGGCCAAGAATTATTCTGGACGTTTC c.420
K E | P K N K T F L R C E A K N Y S G R F p.140
. . . . . . g.13078
ACCTGCTGGTGGCTGACGACAATCAGTACTGATTTGACATTCAGTGTCAAAAGCAGCAGA c.480
T C W W L T T I S T D L T F S V K S S R p.160
| 05 . . . . . . g.15011
GG | CTCTTCTGACCCCCAAGGGGTGACGTGCGGAGCTGCTACACTCTCTGCAGAGAGAGTC c.540
G | S S D P Q G V T C G A A T L S A E R V p.180
. . . . . . g.15071
AGAGGGGACAACAAGGAGTATGAGTACTCAGTGGAGTGCCAGGAGGACAGTGCCTGCCCA c.600
R G D N K E Y E Y S V E C Q E D S A C P p.200
. . . . . . g.15131
GCTGCTGAGGAGAGTCTGCCCATTGAGGTCATGGTGGATGCCGTTCACAAGCTCAAGTAT c.660
A A E E S L P I E V M V D A V H K L K Y p.220
. . . | 06. . . g.16603
GAAAACTACACCAGCAGCTTCTTCATCAGGGACATCA | TCAAACCTGACCCACCCAAGAAC c.720
E N Y T S S F F I R D I I | K P D P P K N p.240
. . . . . . g.16663
TTGCAGCTGAAGCCATTAAAGAATTCTCGGCAGGTGGAGGTCAGCTGGGAGTACCCTGAC c.780
L Q L K P L K N S R Q V E V S W E Y P D p.260
. . . . . . g.16723
ACCTGGAGTACTCCACATTCCTACTTCTCCCTGACATTCTGCGTTCAGGTCCAGGGCAAG c.840
T W S T P H S Y F S L T F C V Q V Q G K p.280
. | 07 . . . . . g.18702
AGCAAGAGAGAAAAG | AAAGATAGAGTCTTCACGGACAAGACCTCAGCCACGGTCATCTGC c.900
S K R E K | K D R V F T D K T S A T V I C p.300
. . . . . . g.18762
CGCAAAAATGCCAGCATTAGCGTGCGGGCCCAGGACCGCTACTATAGCTCATCTTGGAGC c.960
R K N A S I S V R A Q D R Y Y S S S W S p.320
. . g.18789
GAATGGGCATCTGTGCCCTGCAGTTAG | c.988
E W A S V P C S X p.328
| 08 . . . . . . g.19433
| gttctgatccaggatgaaaatttggaggaaaagtggaagatattaagcaaaatgtttaaa c.*60
. . . . . . g.19493
gacacaacggaatagacccaaaaagataatttctatctgatttgctttaaaacgtttttt c.*120
. . . . . . g.19553
taggatcacaatgatatctttgctgtatttgtatagttagatgctaaatgctcattgaaa c.*180
. . . . . . g.19613
caatcagctaatttatgtatagattttccagctctcaagttgccatgggccttcatgcta c.*240
. . . . . . g.19673
tttaaatatttaagtaatttatgtatttattagtatattactgttatttaacgtttgtct c.*300
. . . . . . g.19733
gccaggatgtatggaatgtttcatactcttatgacctgatccatcaggatcagtccctat c.*360
. . . . . . g.19793
tatgcaaaatgtgaatttaattttatttgtactgacaacttttcaagcaaggctgcaagt c.*420
. . . . . . g.19853
acatcagttttatgacaatcaggaagaatgcagtgttctgataccagtgccatcatacac c.*480
. . . . . . g.19913
ttgtgatggatgggaacgcaagagatacttacatggaaacctgacaatgcaaacctgttg c.*540
. . . . . . g.19973
agaagatccaggagaacaagatgctagttcccatgtctgtgaagacttcctggagatggt c.*600
. . . . . . g.20033
gttgataaagcaatttagggccacttacacttctaagcaagtttaatctttggatgcctg c.*660
. . . . . . g.20093
aattttaaaagggctagaaaaaaatgattgaccagcctgggaaacataacaagaccccgt c.*720
. . . . . . g.20153
ctctacaaaaaaaatttaaaattagccaggcgtggtggctcatgcttgtggtcccagctg c.*780
. . . . . . g.20213
ttcaggaggatgaggcaggaggatctcttgagcccaggaggtcaaggctatggtgagccg c.*840
. . . . . . g.20273
tgattgtgccactgcataccagcctaggtgacagaatgagaccctgtctcaaaaaaaaaa c.*900
. . . . . . g.20333
atgattgaaattaaaattcagctttagcttccatggcagtcctcacccccacctctctaa c.*960
. . . . . . g.20393
aagacacaggaggatgacacagaaacaccgtaagtgtctggaaggcaaaaagatcttaag c.*1020
. . . . . . g.20453
attcaagagagaggacaagtagttatggctaaggacatgaaattgtcagaatggcaggtg c.*1080
. . . . . . g.20513
gcttcttaacagccctgtgagaagcagacagatgcaaagaaaatctggaatccctttctc c.*1140
. . . . . . g.20573
attagcatgaatgaacctgatacacaattatgaccagaaaatatggctccatgaaggtgc c.*1200
. . . . . . g.20633
tacttttaagtaatgtatgtgcgctctgtaaagtgattacatttgtttcctgtttgttta c.*1260
. . . . . g.20691
tttatttatttatttttgcattctgaggctgaactaataaaaactcttctttgtaatc c.*1318
(downstream sequence)
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