Canonical Allele Identifier: CA385095157

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823654A>G (hg19) ; chr12:g.53429870A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429870A>G , CM000674.2:g.53429870A>G	GRCh38
NC_000012.11:g.53823654A>G , CM000674.1:g.53823654A>G	GRCh37
NC_000012.10:g.52109921A>G	NCBI36
NG_015981.1:g.11016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1180A>G MANE Select	ENSP00000257863.3:p.Lys394Glu
ENST00000257863.8:c.1180A>G	ENSP00000257863.3:p.Lys394Glu
ENST00000379791.7:c.1140+245A>G	ENSP00000369117.3:n.1140+245A>G
ENST00000550311.5:c.1180A>G	ENSP00000446661.1:p.Lys394Glu
ENST00000550839.1:c.271A>G	ENSP00000455338.1:p.Lys91Glu
ENST00000552233.5:n.768A>G
NM_001164690.1:c.1180A>G	NP_001158162.1:p.Lys394Glu
NM_001164691.1:c.1140+245A>G	NP_001158163.1:n.1140+245A>G
NM_020547.2:c.1180A>G	NP_065434.1:p.Lys394Glu
XM_011538173.1:c.1240A>G	XP_011536475.1:p.Lys414Glu
XM_011538174.1:c.1237A>G	XP_011536476.1:p.Lys413Glu
XM_011538175.1:c.1222A>G	XP_011536477.1:p.Lys408Glu
XM_011538176.1:c.1183A>G	XP_011536478.1:p.Lys395Glu
XM_011538177.1:c.1162A>G	XP_011536479.1:p.Lys388Glu
XM_011538178.1:c.1021A>G	XP_011536480.1:p.Lys341Glu
XM_011538179.1:c.1200+245A>G	XP_011536481.1:n.1200+245A>G
XM_011538180.1:c.907A>G	XP_011536482.1:p.Lys303Glu
XM_011538181.1:c.904A>G	XP_011536483.1:p.Lys302Glu
XM_011538182.1:c.829A>G	XP_011536484.1:p.Lys277Glu
XM_011538183.1:c.1200+245A>G	XP_011536485.1:n.1200+245A>G
XM_011538184.1:c.1220+225A>G	XP_011536486.1:n.1220+225A>G
XM_011538185.1:c.856-1307A>G	XP_011536487.1:n.856-1307A>G
XM_011538186.1:c.355A>G	XP_011536488.1:p.Lys119Glu
NM_001164690.2:c.1180A>G	NP_001158162.1:p.Lys394Glu
NM_001164691.2:c.1140+245A>G	NP_001158163.1:n.1140+245A>G
NM_020547.3:c.1180A>G MANE Select	NP_065434.1:p.Lys394Glu
XM_011538183.2:c.1200+245A>G	XP_011536485.1:n.1200+245A>G
XM_011538184.2:c.1220+225A>G	XP_011536486.1:n.1220+225A>G
XM_011538186.3:c.355A>G	XP_011536488.1:p.Lys119Glu
XM_017019179.2:c.1240A>G	XP_016874668.1:p.Lys414Glu
XM_024448938.1:c.1143+245A>G	XP_024304706.1:n.1143+245A>G
XR_002957309.1:n.1148A>G
XR_002957310.1:n.1108+245A>G
XR_002957311.1:n.1148A>G
XR_002957312.1:n.1108+245A>G