Canonical Allele Identifier: CA2619053050

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429818-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429818C>A , CM000674.2:g.53429818C>A	GRCh38
NC_000012.11:g.53823602C>A , CM000674.1:g.53823602C>A	GRCh37
NC_000012.10:g.52109869C>A	NCBI36
NG_015981.1:g.10964C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1141-13C>A MANE Select	ENSP00000257863.3:n.1141-13C>A
ENST00000257863.8:c.1141-13C>A	ENSP00000257863.3:n.1141-13C>A
ENST00000379791.7:c.1140+193C>A	ENSP00000369117.3:n.1140+193C>A
ENST00000550311.5:c.1141-13C>A	ENSP00000446661.1:n.1141-13C>A
ENST00000550839.1:c.232-13C>A	ENSP00000455338.1:n.232-13C>A
ENST00000552233.5:n.716C>A
NM_001164690.1:c.1141-13C>A	NP_001158162.1:n.1141-13C>A
NM_001164691.1:c.1140+193C>A	NP_001158163.1:n.1140+193C>A
NM_020547.2:c.1141-13C>A	NP_065434.1:n.1141-13C>A
XM_011538173.1:c.1201-13C>A	XP_011536475.1:n.1201-13C>A
XM_011538174.1:c.1198-13C>A	XP_011536476.1:n.1198-13C>A
XM_011538175.1:c.1183-13C>A	XP_011536477.1:n.1183-13C>A
XM_011538176.1:c.1144-13C>A	XP_011536478.1:n.1144-13C>A
XM_011538177.1:c.1123-13C>A	XP_011536479.1:n.1123-13C>A
XM_011538178.1:c.982-13C>A	XP_011536480.1:n.982-13C>A
XM_011538179.1:c.1200+193C>A	XP_011536481.1:n.1200+193C>A
XM_011538180.1:c.868-13C>A	XP_011536482.1:n.868-13C>A
XM_011538181.1:c.865-13C>A	XP_011536483.1:n.865-13C>A
XM_011538182.1:c.790-13C>A	XP_011536484.1:n.790-13C>A
XM_011538183.1:c.1200+193C>A	XP_011536485.1:n.1200+193C>A
XM_011538184.1:c.1220+173C>A	XP_011536486.1:n.1220+173C>A
XM_011538185.1:c.856-1359C>A	XP_011536487.1:n.856-1359C>A
XM_011538186.1:c.316-13C>A	XP_011536488.1:n.316-13C>A
NM_001164690.2:c.1141-13C>A	NP_001158162.1:n.1141-13C>A
NM_001164691.2:c.1140+193C>A	NP_001158163.1:n.1140+193C>A
NM_020547.3:c.1141-13C>A MANE Select	NP_065434.1:n.1141-13C>A
XM_011538183.2:c.1200+193C>A	XP_011536485.1:n.1200+193C>A
XM_011538184.2:c.1220+173C>A	XP_011536486.1:n.1220+173C>A
XM_011538186.3:c.316-13C>A	XP_011536488.1:n.316-13C>A
XM_017019179.2:c.1201-13C>A	XP_016874668.1:n.1201-13C>A
XM_024448938.1:c.1143+193C>A	XP_024304706.1:n.1143+193C>A
XR_002957309.1:n.1109-13C>A
XR_002957310.1:n.1108+193C>A
XR_002957311.1:n.1109-13C>A
XR_002957312.1:n.1108+193C>A