Canonical Allele Identifier: CA480086983

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429953-G-A
• MyVariant Identifiers: chr12:g.53823737G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429953G>A , CM000674.2:g.53429953G>A	GRCh38
NC_000012.11:g.53823737G>A , CM000674.1:g.53823737G>A	GRCh37
NC_000012.10:g.52110004G>A	NCBI36
NG_015981.1:g.11099G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1263G>A MANE Select	ENSP00000257863.3:p.Leu421=
ENST00000257863.8:c.1263G>A	ENSP00000257863.3:p.Leu421=
ENST00000379791.7:c.1140+328G>A	ENSP00000369117.3:n.1140+328G>A
ENST00000550311.5:c.1263G>A	ENSP00000446661.1:p.Leu421=
ENST00000550839.1:c.354G>A	ENSP00000455338.1:p.Leu118=
ENST00000552233.5:n.851G>A
NM_001164690.1:c.1263G>A	NP_001158162.1:p.Leu421=
NM_001164691.1:c.1140+328G>A	NP_001158163.1:n.1140+328G>A
NM_020547.2:c.1263G>A	NP_065434.1:p.Leu421=
XM_011538173.1:c.1323G>A	XP_011536475.1:p.Leu441=
XM_011538174.1:c.1320G>A	XP_011536476.1:p.Leu440=
XM_011538175.1:c.1305G>A	XP_011536477.1:p.Leu435=
XM_011538176.1:c.1266G>A	XP_011536478.1:p.Leu422=
XM_011538177.1:c.1245G>A	XP_011536479.1:p.Leu415=
XM_011538178.1:c.1104G>A	XP_011536480.1:p.Leu368=
XM_011538179.1:c.1200+328G>A	XP_011536481.1:n.1200+328G>A
XM_011538180.1:c.990G>A	XP_011536482.1:p.Leu330=
XM_011538181.1:c.987G>A	XP_011536483.1:p.Leu329=
XM_011538182.1:c.912G>A	XP_011536484.1:p.Leu304=
XM_011538183.1:c.1201-193G>A	XP_011536485.1:n.1201-193G>A
XM_011538184.1:c.1220+308G>A	XP_011536486.1:n.1220+308G>A
XM_011538185.1:c.856-1224G>A	XP_011536487.1:n.856-1224G>A
XM_011538186.1:c.438G>A	XP_011536488.1:p.Leu146=
NM_001164690.2:c.1263G>A	NP_001158162.1:p.Leu421=
NM_001164691.2:c.1140+328G>A	NP_001158163.1:n.1140+328G>A
NM_020547.3:c.1263G>A MANE Select	NP_065434.1:p.Leu421=
XM_011538183.2:c.1201-193G>A	XP_011536485.1:n.1201-193G>A
XM_011538184.2:c.1220+308G>A	XP_011536486.1:n.1220+308G>A
XM_011538186.3:c.438G>A	XP_011536488.1:p.Leu146=
XM_017019179.2:c.1323G>A	XP_016874668.1:p.Leu441=
XM_024448938.1:c.1143+328G>A	XP_024304706.1:n.1143+328G>A
XR_002957309.1:n.1231G>A
XR_002957310.1:n.1109-193G>A
XR_002957311.1:n.1231G>A
XR_002957312.1:n.1108+328G>A