Canonical Allele Identifier: CA2619053026

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429798-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429798A>C , CM000674.2:g.53429798A>C	GRCh38
NC_000012.11:g.53823582A>C , CM000674.1:g.53823582A>C	GRCh37
NC_000012.10:g.52109849A>C	NCBI36
NG_015981.1:g.10944A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1141-33A>C MANE Select	ENSP00000257863.3:n.1141-33A>C
ENST00000257863.8:c.1141-33A>C	ENSP00000257863.3:n.1141-33A>C
ENST00000379791.7:c.1140+173A>C	ENSP00000369117.3:n.1140+173A>C
ENST00000550311.5:c.1141-33A>C	ENSP00000446661.1:n.1141-33A>C
ENST00000550839.1:c.232-33A>C	ENSP00000455338.1:n.232-33A>C
ENST00000552233.5:n.696A>C
NM_001164690.1:c.1141-33A>C	NP_001158162.1:n.1141-33A>C
NM_001164691.1:c.1140+173A>C	NP_001158163.1:n.1140+173A>C
NM_020547.2:c.1141-33A>C	NP_065434.1:n.1141-33A>C
XM_011538173.1:c.1201-33A>C	XP_011536475.1:n.1201-33A>C
XM_011538174.1:c.1198-33A>C	XP_011536476.1:n.1198-33A>C
XM_011538175.1:c.1183-33A>C	XP_011536477.1:n.1183-33A>C
XM_011538176.1:c.1144-33A>C	XP_011536478.1:n.1144-33A>C
XM_011538177.1:c.1123-33A>C	XP_011536479.1:n.1123-33A>C
XM_011538178.1:c.982-33A>C	XP_011536480.1:n.982-33A>C
XM_011538179.1:c.1200+173A>C	XP_011536481.1:n.1200+173A>C
XM_011538180.1:c.868-33A>C	XP_011536482.1:n.868-33A>C
XM_011538181.1:c.865-33A>C	XP_011536483.1:n.865-33A>C
XM_011538182.1:c.790-33A>C	XP_011536484.1:n.790-33A>C
XM_011538183.1:c.1200+173A>C	XP_011536485.1:n.1200+173A>C
XM_011538184.1:c.1220+153A>C	XP_011536486.1:n.1220+153A>C
XM_011538185.1:c.856-1379A>C	XP_011536487.1:n.856-1379A>C
XM_011538186.1:c.316-33A>C	XP_011536488.1:n.316-33A>C
NM_001164690.2:c.1141-33A>C	NP_001158162.1:n.1141-33A>C
NM_001164691.2:c.1140+173A>C	NP_001158163.1:n.1140+173A>C
NM_020547.3:c.1141-33A>C MANE Select	NP_065434.1:n.1141-33A>C
XM_011538183.2:c.1200+173A>C	XP_011536485.1:n.1200+173A>C
XM_011538184.2:c.1220+153A>C	XP_011536486.1:n.1220+153A>C
XM_011538186.3:c.316-33A>C	XP_011536488.1:n.316-33A>C
XM_017019179.2:c.1201-33A>C	XP_016874668.1:n.1201-33A>C
XM_024448938.1:c.1143+173A>C	XP_024304706.1:n.1143+173A>C
XR_002957309.1:n.1109-33A>C
XR_002957310.1:n.1108+173A>C
XR_002957311.1:n.1109-33A>C
XR_002957312.1:n.1108+173A>C