Canonical Allele Identifier: CA385095040

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429846-T-C
• MyVariant Identifiers: chr12:g.53823630T>C (hg19) ; chr12:g.53429846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429846T>C , CM000674.2:g.53429846T>C	GRCh38
NC_000012.11:g.53823630T>C , CM000674.1:g.53823630T>C	GRCh37
NC_000012.10:g.52109897T>C	NCBI36
NG_015981.1:g.10992T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1156T>C MANE Select	ENSP00000257863.3:p.Tyr386His
ENST00000257863.8:c.1156T>C	ENSP00000257863.3:p.Tyr386His
ENST00000379791.7:c.1140+221T>C	ENSP00000369117.3:n.1140+221T>C
ENST00000550311.5:c.1156T>C	ENSP00000446661.1:p.Tyr386His
ENST00000550839.1:c.247T>C	ENSP00000455338.1:p.Tyr83His
ENST00000552233.5:n.744T>C
NM_001164690.1:c.1156T>C	NP_001158162.1:p.Tyr386His
NM_001164691.1:c.1140+221T>C	NP_001158163.1:n.1140+221T>C
NM_020547.2:c.1156T>C	NP_065434.1:p.Tyr386His
XM_011538173.1:c.1216T>C	XP_011536475.1:p.Tyr406His
XM_011538174.1:c.1213T>C	XP_011536476.1:p.Tyr405His
XM_011538175.1:c.1198T>C	XP_011536477.1:p.Tyr400His
XM_011538176.1:c.1159T>C	XP_011536478.1:p.Tyr387His
XM_011538177.1:c.1138T>C	XP_011536479.1:p.Tyr380His
XM_011538178.1:c.997T>C	XP_011536480.1:p.Tyr333His
XM_011538179.1:c.1200+221T>C	XP_011536481.1:n.1200+221T>C
XM_011538180.1:c.883T>C	XP_011536482.1:p.Tyr295His
XM_011538181.1:c.880T>C	XP_011536483.1:p.Tyr294His
XM_011538182.1:c.805T>C	XP_011536484.1:p.Tyr269His
XM_011538183.1:c.1200+221T>C	XP_011536485.1:n.1200+221T>C
XM_011538184.1:c.1220+201T>C	XP_011536486.1:n.1220+201T>C
XM_011538185.1:c.856-1331T>C	XP_011536487.1:n.856-1331T>C
XM_011538186.1:c.331T>C	XP_011536488.1:p.Tyr111His
NM_001164690.2:c.1156T>C	NP_001158162.1:p.Tyr386His
NM_001164691.2:c.1140+221T>C	NP_001158163.1:n.1140+221T>C
NM_020547.3:c.1156T>C MANE Select	NP_065434.1:p.Tyr386His
XM_011538183.2:c.1200+221T>C	XP_011536485.1:n.1200+221T>C
XM_011538184.2:c.1220+201T>C	XP_011536486.1:n.1220+201T>C
XM_011538186.3:c.331T>C	XP_011536488.1:p.Tyr111His
XM_017019179.2:c.1216T>C	XP_016874668.1:p.Tyr406His
XM_024448938.1:c.1143+221T>C	XP_024304706.1:n.1143+221T>C
XR_002957309.1:n.1124T>C
XR_002957310.1:n.1108+221T>C
XR_002957311.1:n.1124T>C
XR_002957312.1:n.1108+221T>C