Canonical Allele Identifier: CA2036978609

Gene: AMHR2

Linked Data

• dbSNP Id: rs1939936243
• gnomAD v4: 12-53429629-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429629A>G , CM000674.2:g.53429629A>G	GRCh38
NC_000012.11:g.53823413A>G , CM000674.1:g.53823413A>G	GRCh37
NC_000012.10:g.52109680A>G	NCBI36
NG_015981.1:g.10775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1140+4A>G MANE Select	ENSP00000257863.3:n.1140+4A>G
ENST00000257863.8:c.1140+4A>G	ENSP00000257863.3:n.1140+4A>G
ENST00000379791.7:c.1140+4A>G	ENSP00000369117.3:n.1140+4A>G
ENST00000550311.5:c.1140+4A>G	ENSP00000446661.1:n.1140+4A>G
ENST00000550839.1:c.231+4A>G	ENSP00000455338.1:n.231+4A>G
ENST00000552233.5:n.527A>G
NM_001164690.1:c.1140+4A>G	NP_001158162.1:n.1140+4A>G
NM_001164691.1:c.1140+4A>G	NP_001158163.1:n.1140+4A>G
NM_020547.2:c.1140+4A>G	NP_065434.1:n.1140+4A>G
XM_011538173.1:c.1200+4A>G	XP_011536475.1:n.1200+4A>G
XM_011538174.1:c.1197+4A>G	XP_011536476.1:n.1197+4A>G
XM_011538175.1:c.1182+4A>G	XP_011536477.1:n.1182+4A>G
XM_011538176.1:c.1143+4A>G	XP_011536478.1:n.1143+4A>G
XM_011538177.1:c.1122+4A>G	XP_011536479.1:n.1122+4A>G
XM_011538178.1:c.981+4A>G	XP_011536480.1:n.981+4A>G
XM_011538179.1:c.1200+4A>G	XP_011536481.1:n.1200+4A>G
XM_011538180.1:c.867+4A>G	XP_011536482.1:n.867+4A>G
XM_011538181.1:c.864+4A>G	XP_011536483.1:n.864+4A>G
XM_011538182.1:c.789+4A>G	XP_011536484.1:n.789+4A>G
XM_011538183.1:c.1200+4A>G	XP_011536485.1:n.1200+4A>G
XM_011538184.1:c.1204A>G	XP_011536486.1:p.Ser402Gly
XM_011538185.1:c.856-1548A>G	XP_011536487.1:n.856-1548A>G
XM_011538186.1:c.315+4A>G	XP_011536488.1:n.315+4A>G
NM_001164690.2:c.1140+4A>G	NP_001158162.1:n.1140+4A>G
NM_001164691.2:c.1140+4A>G	NP_001158163.1:n.1140+4A>G
NM_020547.3:c.1140+4A>G MANE Select	NP_065434.1:n.1140+4A>G
XM_011538183.2:c.1200+4A>G	XP_011536485.1:n.1200+4A>G
XM_011538184.2:c.1204A>G	XP_011536486.1:p.Ser402Gly
XM_011538186.3:c.315+4A>G	XP_011536488.1:n.315+4A>G
XM_017019179.2:c.1200+4A>G	XP_016874668.1:n.1200+4A>G
XM_024448938.1:c.1143+4A>G	XP_024304706.1:n.1143+4A>G
XR_002957309.1:n.1108+4A>G
XR_002957310.1:n.1108+4A>G
XR_002957311.1:n.1108+4A>G
XR_002957312.1:n.1108+4A>G