Canonical Allele Identifier: CA385095468

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823732A>G (hg19) ; chr12:g.53429948A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429948A>G , CM000674.2:g.53429948A>G	GRCh38
NC_000012.11:g.53823732A>G , CM000674.1:g.53823732A>G	GRCh37
NC_000012.10:g.52109999A>G	NCBI36
NG_015981.1:g.11094A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1258A>G MANE Select	ENSP00000257863.3:p.Ile420Val
ENST00000257863.8:c.1258A>G	ENSP00000257863.3:p.Ile420Val
ENST00000379791.7:c.1140+323A>G	ENSP00000369117.3:n.1140+323A>G
ENST00000550311.5:c.1258A>G	ENSP00000446661.1:p.Ile420Val
ENST00000550839.1:c.349A>G	ENSP00000455338.1:p.Ile117Val
ENST00000552233.5:n.846A>G
NM_001164690.1:c.1258A>G	NP_001158162.1:p.Ile420Val
NM_001164691.1:c.1140+323A>G	NP_001158163.1:n.1140+323A>G
NM_020547.2:c.1258A>G	NP_065434.1:p.Ile420Val
XM_011538173.1:c.1318A>G	XP_011536475.1:p.Ile440Val
XM_011538174.1:c.1315A>G	XP_011536476.1:p.Ile439Val
XM_011538175.1:c.1300A>G	XP_011536477.1:p.Ile434Val
XM_011538176.1:c.1261A>G	XP_011536478.1:p.Ile421Val
XM_011538177.1:c.1240A>G	XP_011536479.1:p.Ile414Val
XM_011538178.1:c.1099A>G	XP_011536480.1:p.Ile367Val
XM_011538179.1:c.1200+323A>G	XP_011536481.1:n.1200+323A>G
XM_011538180.1:c.985A>G	XP_011536482.1:p.Ile329Val
XM_011538181.1:c.982A>G	XP_011536483.1:p.Ile328Val
XM_011538182.1:c.907A>G	XP_011536484.1:p.Ile303Val
XM_011538183.1:c.1201-198A>G	XP_011536485.1:n.1201-198A>G
XM_011538184.1:c.1220+303A>G	XP_011536486.1:n.1220+303A>G
XM_011538185.1:c.856-1229A>G	XP_011536487.1:n.856-1229A>G
XM_011538186.1:c.433A>G	XP_011536488.1:p.Ile145Val
NM_001164690.2:c.1258A>G	NP_001158162.1:p.Ile420Val
NM_001164691.2:c.1140+323A>G	NP_001158163.1:n.1140+323A>G
NM_020547.3:c.1258A>G MANE Select	NP_065434.1:p.Ile420Val
XM_011538183.2:c.1201-198A>G	XP_011536485.1:n.1201-198A>G
XM_011538184.2:c.1220+303A>G	XP_011536486.1:n.1220+303A>G
XM_011538186.3:c.433A>G	XP_011536488.1:p.Ile145Val
XM_017019179.2:c.1318A>G	XP_016874668.1:p.Ile440Val
XM_024448938.1:c.1143+323A>G	XP_024304706.1:n.1143+323A>G
XR_002957309.1:n.1226A>G
XR_002957310.1:n.1109-198A>G
XR_002957311.1:n.1226A>G
XR_002957312.1:n.1108+323A>G