Canonical Allele Identifier: CA385095127

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823648T>G (hg19) ; chr12:g.53429864T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429864T>G , CM000674.2:g.53429864T>G	GRCh38
NC_000012.11:g.53823648T>G , CM000674.1:g.53823648T>G	GRCh37
NC_000012.10:g.52109915T>G	NCBI36
NG_015981.1:g.11010T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1174T>G MANE Select	ENSP00000257863.3:p.Leu392Val
ENST00000257863.8:c.1174T>G	ENSP00000257863.3:p.Leu392Val
ENST00000379791.7:c.1140+239T>G	ENSP00000369117.3:n.1140+239T>G
ENST00000550311.5:c.1174T>G	ENSP00000446661.1:p.Leu392Val
ENST00000550839.1:c.265T>G	ENSP00000455338.1:p.Leu89Val
ENST00000552233.5:n.762T>G
NM_001164690.1:c.1174T>G	NP_001158162.1:p.Leu392Val
NM_001164691.1:c.1140+239T>G	NP_001158163.1:n.1140+239T>G
NM_020547.2:c.1174T>G	NP_065434.1:p.Leu392Val
XM_011538173.1:c.1234T>G	XP_011536475.1:p.Leu412Val
XM_011538174.1:c.1231T>G	XP_011536476.1:p.Leu411Val
XM_011538175.1:c.1216T>G	XP_011536477.1:p.Leu406Val
XM_011538176.1:c.1177T>G	XP_011536478.1:p.Leu393Val
XM_011538177.1:c.1156T>G	XP_011536479.1:p.Leu386Val
XM_011538178.1:c.1015T>G	XP_011536480.1:p.Leu339Val
XM_011538179.1:c.1200+239T>G	XP_011536481.1:n.1200+239T>G
XM_011538180.1:c.901T>G	XP_011536482.1:p.Leu301Val
XM_011538181.1:c.898T>G	XP_011536483.1:p.Leu300Val
XM_011538182.1:c.823T>G	XP_011536484.1:p.Leu275Val
XM_011538183.1:c.1200+239T>G	XP_011536485.1:n.1200+239T>G
XM_011538184.1:c.1220+219T>G	XP_011536486.1:n.1220+219T>G
XM_011538185.1:c.856-1313T>G	XP_011536487.1:n.856-1313T>G
XM_011538186.1:c.349T>G	XP_011536488.1:p.Leu117Val
NM_001164690.2:c.1174T>G	NP_001158162.1:p.Leu392Val
NM_001164691.2:c.1140+239T>G	NP_001158163.1:n.1140+239T>G
NM_020547.3:c.1174T>G MANE Select	NP_065434.1:p.Leu392Val
XM_011538183.2:c.1200+239T>G	XP_011536485.1:n.1200+239T>G
XM_011538184.2:c.1220+219T>G	XP_011536486.1:n.1220+219T>G
XM_011538186.3:c.349T>G	XP_011536488.1:p.Leu117Val
XM_017019179.2:c.1234T>G	XP_016874668.1:p.Leu412Val
XM_024448938.1:c.1143+239T>G	XP_024304706.1:n.1143+239T>G
XR_002957309.1:n.1142T>G
XR_002957310.1:n.1108+239T>G
XR_002957311.1:n.1142T>G
XR_002957312.1:n.1108+239T>G