Canonical Allele Identifier: CA385095543

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823748C>T (hg19) ; chr12:g.53429964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429964C>T , CM000674.2:g.53429964C>T	GRCh38
NC_000012.11:g.53823748C>T , CM000674.1:g.53823748C>T	GRCh37
NC_000012.10:g.52110015C>T	NCBI36
NG_015981.1:g.11110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1274C>T MANE Select	ENSP00000257863.3:p.Pro425Leu
ENST00000257863.8:c.1274C>T	ENSP00000257863.3:p.Pro425Leu
ENST00000379791.7:c.1140+339C>T	ENSP00000369117.3:n.1140+339C>T
ENST00000550311.5:c.1274C>T	ENSP00000446661.1:p.Pro425Leu
ENST00000550839.1:c.365C>T	ENSP00000455338.1:p.Pro122Leu
ENST00000552233.5:n.862C>T
NM_001164690.1:c.1274C>T	NP_001158162.1:p.Pro425Leu
NM_001164691.1:c.1140+339C>T	NP_001158163.1:n.1140+339C>T
NM_020547.2:c.1274C>T	NP_065434.1:p.Pro425Leu
XM_011538173.1:c.1334C>T	XP_011536475.1:p.Pro445Leu
XM_011538174.1:c.1331C>T	XP_011536476.1:p.Pro444Leu
XM_011538175.1:c.1316C>T	XP_011536477.1:p.Pro439Leu
XM_011538176.1:c.1277C>T	XP_011536478.1:p.Pro426Leu
XM_011538177.1:c.1256C>T	XP_011536479.1:p.Pro419Leu
XM_011538178.1:c.1115C>T	XP_011536480.1:p.Pro372Leu
XM_011538179.1:c.1200+339C>T	XP_011536481.1:n.1200+339C>T
XM_011538180.1:c.1001C>T	XP_011536482.1:p.Pro334Leu
XM_011538181.1:c.998C>T	XP_011536483.1:p.Pro333Leu
XM_011538182.1:c.923C>T	XP_011536484.1:p.Pro308Leu
XM_011538183.1:c.1201-182C>T	XP_011536485.1:n.1201-182C>T
XM_011538184.1:c.1220+319C>T	XP_011536486.1:n.1220+319C>T
XM_011538185.1:c.856-1213C>T	XP_011536487.1:n.856-1213C>T
XM_011538186.1:c.449C>T	XP_011536488.1:p.Pro150Leu
NM_001164690.2:c.1274C>T	NP_001158162.1:p.Pro425Leu
NM_001164691.2:c.1140+339C>T	NP_001158163.1:n.1140+339C>T
NM_020547.3:c.1274C>T MANE Select	NP_065434.1:p.Pro425Leu
XM_011538183.2:c.1201-182C>T	XP_011536485.1:n.1201-182C>T
XM_011538184.2:c.1220+319C>T	XP_011536486.1:n.1220+319C>T
XM_011538186.3:c.449C>T	XP_011536488.1:p.Pro150Leu
XM_017019179.2:c.1334C>T	XP_016874668.1:p.Pro445Leu
XM_024448938.1:c.1143+339C>T	XP_024304706.1:n.1143+339C>T
XR_002957309.1:n.1242C>T
XR_002957310.1:n.1109-182C>T
XR_002957311.1:n.1242C>T
XR_002957312.1:n.1108+339C>T