(used for variant description)
(last modified August 17, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_005534.3 in the IFNGR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_007570.2, covering IFNGR2 transcript NM_005534.3.
(upstream sequence)
. . . . g.22951
gttgactggaggcggaggttgcagtgagccgagatcgccccactgcac c.-601
. . . . . . g.23011
tccagcctggtgactccgtctcaaaaaaaaggggaggggggcgggggagagttgaaagct c.-541
. . . . . . g.23071
taatatgtactttgggggctattaaagcaaacatttcgactaaaggggcgaatcctcgaa c.-481
. . . . . . g.23131
ttgtgcgatcaagcacccgagaggagagttggggggggtcaggaggggtgggggctccag c.-421
. . . . . . g.23191
ggaaagcccgggggtctgggccggggtctcgcggggcccttccggaaggatcgcggcccc c.-361
. . . . . . g.23251
cgaaggtgggcgtcccgcggggctccagtctccaggacgttccgggaggctccgcgctct c.-301
. . . . . . g.23311
gggaggccggctgcgtggggtccccgcgctgcagccgcagaggccccccagggccgcggt c.-241
. . . . . . g.23371
tcccggagcgggaaagtcccgcgcgggggcggtggcctcgggggcgggacggggcggggg c.-181
. . . . . . g.23431
cgggggcgcgggcggccgagccgaatcccctccaccgggacgccccgctgctgctcggga c.-121
. . . . . . g.23491
agaggcgggccctgcgcgccctgcgctcgccatggcggtttgggcggcgacgtgagcggc c.-61
. . . . . . g.23551
tccgcggaccccgagcggggccccggccgcgacctgagccgccgccgagcgcccggggcc c.-1
. . . . . . g.23611
ATGCGACCGACGCTGCTGTGGTCGCTGCTGCTGCTGCTCGGAGTCTTCGCCGCCGCCGCC c.60
M R P T L L W S L L L L L G V F A A A A p.20
. | 02 . . . . . g.34943
GCGGCCCCGCCAG | ACCCTCTTTCCCAGCTGCCCGCTCCTCAGCACCCGAAGATTCGCCTG c.120
A A P P D | P L S Q L P A P Q H P K I R L p.40
. . . . . . g.35003
TACAACGCAGAGCAGGTCCTGAGTTGGGAGCCAGTGGCCCTGAGCAATAGCACGAGGCCT c.180
Y N A E Q V L S W E P V A L S N S T R P p.60
. . | 03 . . . . g.41522
GTTGTCTACCAAGTGCAGTTTAAATA | CACCGACAGTAAATGGTTCACGGCCGACATCATG c.240
V V Y Q V Q F K Y | T D S K W F T A D I M p.80
. . . . . . g.41582
TCCATAGGGGTGAATTGTACACAGATCACAGCAACAGAGTGTGACTTCACTGCCGCCAGT c.300
S I G V N C T Q I T A T E C D F T A A S p.100
. . . . . . g.41642
CCCTCAGCAGGCTTCCCAATGGATTTCAATGTCACTCTACGCCTTCGAGCTGAGCTGGGA c.360
P S A G F P M D F N V T L R L R A E L G p.120
. . . . . | 04 . g.46900
GCACTCCATTCTGCCTGGGTGACAATGCCTTGGTTTCAACACTATCGGAATG | TGACTGTC c.420
A L H S A W V T M P W F Q H Y R N V | T V p.140
. . . . . . g.46960
GGGCCTCCAGAAAACATTGAGGTGACCCCAGGAGAAGGCTCCCTCATCATCAGGTTCTCC c.480
G P P E N I E V T P G E G S L I I R F S p.160
. . . . . . g.47020
TCTCCCTTTGACATCGCTGATACCTCCACGGCCTTTTTTTGTTATTATGTCCATTACTGG c.540
S P F D I A D T S T A F F C Y Y V H Y W p.180
. . | 05 . . . . g.52224
GAAAAAGGAGGAATCCAACAG | GTCAAAGGCCCTTTCAGAAGCAACTCCATTTCATTGGAT c.600
E K G G I Q Q | V K G P F R S N S I S L D p.200
. . . . . . g.52284
AACTTAAAACCCTCCAGAGTGTACTGTTTACAAGTCCAGGCACAACTGCTTTGGAACAAA c.660
N L K P S R V Y C L Q V Q A Q L L W N K p.220
. . . . . . g.52344
AGTAACATCTTTAGAGTCGGGCATTTAAGCAACATATCTTGCTACGAAACAATGGCAGAT c.720
S N I F R V G H L S N I S C Y E T M A D p.240
| 06 . . . . . . g.52781
G | CCTCCACTGAGCTTCAGCAAGTCATCCTGATCTCCGTGGGAACATTTTCGTTGCTGTCG c.780
A | S T E L Q Q V I L I S V G T F S L L S p.260
. . . . . . g.52841
GTGCTGGCAGGAGCCTGTTTCTTCCTGGTCCTGAAATATAGAGGCCTGATTAAATACTGG c.840
V L A G A C F F L V L K Y R G L I K Y W p.280
. . . | 07 . . g.56857
TTTCACACTCCACCAAGCATCCCATTACAGATAGAAGAG | TATTTAAAAGACCCAACTCAG c.900
F H T P P S I P L Q I E E | Y L K D P T Q p.300
. . . . . . g.56917
CCCATCTTAGAGGCCTTGGACAAGGACAGCTCACCAAAGGATGACGTCTGGGACTCTGTG c.960
P I L E A L D K D S S P K D D V W D S V p.320
. . . . . g.56971
TCCATTATCTCGTTTCCGGAAAAGGAGCAAGAAGATGTTCTCCAAACGCTTTGA c.1014
S I I S F P E K E Q E D V L Q T L X p.337
. . . . . . g.57031
accaaagcatgggcctagcccactggctccctggaagagatcaagccatcggagctgcta c.*60
. . . . . . g.57091
gagttctgtctggactttccagagaccagtattcccttttgctgcctctaaaaggcctgt c.*120
. . . . . . g.57151
ccctgcagacatgagagacagcaggtctcatgggggtgacaagctttttttttttttctt c.*180
. . . . . . g.57211
aaagaattttcaaaatcaaattccagaatgattttacggagatatcccaggaaaattaag c.*240
. . . . . . g.57271
gcttctcttaaacactaaaaaggcatgtaattgcttgttagcaaaatggatatgacacat c.*300
. . . . . . g.57331
ctctgatacttttttcattattggttgggctgagcagtcagaagacctggtcgtcgtctt c.*360
. . . . . . g.57391
gactttggcaaatgagccggagccccttgggcaggtcacacaacctgtcccagcgaggga c.*420
. . . . . . g.57451
caccgagtggcccttcatgtacatccatggtgtgctggcttaaaatgtaattaatcttgt c.*480
. . . . . . g.57511
aaatatactcctagtaatttaagattttgtttttaaactggaaataaaagattgtatagt c.*540
. g.57530
gcatgttttttaaagtcta c.*559
(downstream sequence)
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