Canonical Allele Identifier: CA385095072

Gene: AMHR2

Linked Data

• dbSNP Id: rs1452594237
• gnomAD v2: 12-53823636-G-A
• gnomAD v3: 12-53429852-G-A
• gnomAD v4: 12-53429852-G-A
• MyVariant Identifiers: chr12:g.53823636G>A (hg19) ; chr12:g.53429852G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429852G>A , CM000674.2:g.53429852G>A	GRCh38
NC_000012.11:g.53823636G>A , CM000674.1:g.53823636G>A	GRCh37
NC_000012.10:g.52109903G>A	NCBI36
NG_015981.1:g.10998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1162G>A MANE Select	ENSP00000257863.3:p.Ala388Thr
ENST00000257863.8:c.1162G>A	ENSP00000257863.3:p.Ala388Thr
ENST00000379791.7:c.1140+227G>A	ENSP00000369117.3:n.1140+227G>A
ENST00000550311.5:c.1162G>A	ENSP00000446661.1:p.Ala388Thr
ENST00000550839.1:c.253G>A	ENSP00000455338.1:p.Ala85Thr
ENST00000552233.5:n.750G>A
NM_001164690.1:c.1162G>A	NP_001158162.1:p.Ala388Thr
NM_001164691.1:c.1140+227G>A	NP_001158163.1:n.1140+227G>A
NM_020547.2:c.1162G>A	NP_065434.1:p.Ala388Thr
XM_011538173.1:c.1222G>A	XP_011536475.1:p.Ala408Thr
XM_011538174.1:c.1219G>A	XP_011536476.1:p.Ala407Thr
XM_011538175.1:c.1204G>A	XP_011536477.1:p.Ala402Thr
XM_011538176.1:c.1165G>A	XP_011536478.1:p.Ala389Thr
XM_011538177.1:c.1144G>A	XP_011536479.1:p.Ala382Thr
XM_011538178.1:c.1003G>A	XP_011536480.1:p.Ala335Thr
XM_011538179.1:c.1200+227G>A	XP_011536481.1:n.1200+227G>A
XM_011538180.1:c.889G>A	XP_011536482.1:p.Ala297Thr
XM_011538181.1:c.886G>A	XP_011536483.1:p.Ala296Thr
XM_011538182.1:c.811G>A	XP_011536484.1:p.Ala271Thr
XM_011538183.1:c.1200+227G>A	XP_011536485.1:n.1200+227G>A
XM_011538184.1:c.1220+207G>A	XP_011536486.1:n.1220+207G>A
XM_011538185.1:c.856-1325G>A	XP_011536487.1:n.856-1325G>A
XM_011538186.1:c.337G>A	XP_011536488.1:p.Ala113Thr
NM_001164690.2:c.1162G>A	NP_001158162.1:p.Ala388Thr
NM_001164691.2:c.1140+227G>A	NP_001158163.1:n.1140+227G>A
NM_020547.3:c.1162G>A MANE Select	NP_065434.1:p.Ala388Thr
XM_011538183.2:c.1200+227G>A	XP_011536485.1:n.1200+227G>A
XM_011538184.2:c.1220+207G>A	XP_011536486.1:n.1220+207G>A
XM_011538186.3:c.337G>A	XP_011536488.1:p.Ala113Thr
XM_017019179.2:c.1222G>A	XP_016874668.1:p.Ala408Thr
XM_024448938.1:c.1143+227G>A	XP_024304706.1:n.1143+227G>A
XR_002957309.1:n.1130G>A
XR_002957310.1:n.1108+227G>A
XR_002957311.1:n.1130G>A
XR_002957312.1:n.1108+227G>A