Canonical Allele Identifier: CA385095470

Gene: AMHR2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1258A>T MANE Select	ENSP00000257863.3:p.Ile420Leu
ENST00000257863.8:c.1258A>T	ENSP00000257863.3:p.Ile420Leu
ENST00000379791.7:c.1140+323A>T	ENSP00000369117.3:n.1140+323A>T
ENST00000550311.5:c.1258A>T	ENSP00000446661.1:p.Ile420Leu
ENST00000550839.1:c.349A>T	ENSP00000455338.1:p.Ile117Leu
ENST00000552233.5:n.846A>T
NM_001164690.1:c.1258A>T	NP_001158162.1:p.Ile420Leu
NM_001164691.1:c.1140+323A>T	NP_001158163.1:n.1140+323A>T
NM_020547.2:c.1258A>T	NP_065434.1:p.Ile420Leu
XM_011538173.1:c.1318A>T	XP_011536475.1:p.Ile440Leu
XM_011538174.1:c.1315A>T	XP_011536476.1:p.Ile439Leu
XM_011538175.1:c.1300A>T	XP_011536477.1:p.Ile434Leu
XM_011538176.1:c.1261A>T	XP_011536478.1:p.Ile421Leu
XM_011538177.1:c.1240A>T	XP_011536479.1:p.Ile414Leu
XM_011538178.1:c.1099A>T	XP_011536480.1:p.Ile367Leu
XM_011538179.1:c.1200+323A>T	XP_011536481.1:n.1200+323A>T
XM_011538180.1:c.985A>T	XP_011536482.1:p.Ile329Leu
XM_011538181.1:c.982A>T	XP_011536483.1:p.Ile328Leu
XM_011538182.1:c.907A>T	XP_011536484.1:p.Ile303Leu
XM_011538183.1:c.1201-198A>T	XP_011536485.1:n.1201-198A>T
XM_011538184.1:c.1220+303A>T	XP_011536486.1:n.1220+303A>T
XM_011538185.1:c.856-1229A>T	XP_011536487.1:n.856-1229A>T
XM_011538186.1:c.433A>T	XP_011536488.1:p.Ile145Leu
NM_001164690.2:c.1258A>T	NP_001158162.1:p.Ile420Leu
NM_001164691.2:c.1140+323A>T	NP_001158163.1:n.1140+323A>T
NM_020547.3:c.1258A>T MANE Select	NP_065434.1:p.Ile420Leu
XM_011538183.2:c.1201-198A>T	XP_011536485.1:n.1201-198A>T
XM_011538184.2:c.1220+303A>T	XP_011536486.1:n.1220+303A>T
XM_011538186.3:c.433A>T	XP_011536488.1:p.Ile145Leu
XM_017019179.2:c.1318A>T	XP_016874668.1:p.Ile440Leu
XM_024448938.1:c.1143+323A>T	XP_024304706.1:n.1143+323A>T
XR_002957309.1:n.1226A>T
XR_002957310.1:n.1109-198A>T
XR_002957311.1:n.1226A>T
XR_002957312.1:n.1108+323A>T