(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)Legend:
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