Canonical Allele Identifier: CA385095194

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823661T>C (hg19) ; chr12:g.53429877T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429877T>C , CM000674.2:g.53429877T>C	GRCh38
NC_000012.11:g.53823661T>C , CM000674.1:g.53823661T>C	GRCh37
NC_000012.10:g.52109928T>C	NCBI36
NG_015981.1:g.11023T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1187T>C MANE Select	ENSP00000257863.3:p.Leu396Pro
ENST00000257863.8:c.1187T>C	ENSP00000257863.3:p.Leu396Pro
ENST00000379791.7:c.1140+252T>C	ENSP00000369117.3:n.1140+252T>C
ENST00000550311.5:c.1187T>C	ENSP00000446661.1:p.Leu396Pro
ENST00000550839.1:c.278T>C	ENSP00000455338.1:p.Leu93Pro
ENST00000552233.5:n.775T>C
NM_001164690.1:c.1187T>C	NP_001158162.1:p.Leu396Pro
NM_001164691.1:c.1140+252T>C	NP_001158163.1:n.1140+252T>C
NM_020547.2:c.1187T>C	NP_065434.1:p.Leu396Pro
XM_011538173.1:c.1247T>C	XP_011536475.1:p.Leu416Pro
XM_011538174.1:c.1244T>C	XP_011536476.1:p.Leu415Pro
XM_011538175.1:c.1229T>C	XP_011536477.1:p.Leu410Pro
XM_011538176.1:c.1190T>C	XP_011536478.1:p.Leu397Pro
XM_011538177.1:c.1169T>C	XP_011536479.1:p.Leu390Pro
XM_011538178.1:c.1028T>C	XP_011536480.1:p.Leu343Pro
XM_011538179.1:c.1200+252T>C	XP_011536481.1:n.1200+252T>C
XM_011538180.1:c.914T>C	XP_011536482.1:p.Leu305Pro
XM_011538181.1:c.911T>C	XP_011536483.1:p.Leu304Pro
XM_011538182.1:c.836T>C	XP_011536484.1:p.Leu279Pro
XM_011538183.1:c.1200+252T>C	XP_011536485.1:n.1200+252T>C
XM_011538184.1:c.1220+232T>C	XP_011536486.1:n.1220+232T>C
XM_011538185.1:c.856-1300T>C	XP_011536487.1:n.856-1300T>C
XM_011538186.1:c.362T>C	XP_011536488.1:p.Leu121Pro
NM_001164690.2:c.1187T>C	NP_001158162.1:p.Leu396Pro
NM_001164691.2:c.1140+252T>C	NP_001158163.1:n.1140+252T>C
NM_020547.3:c.1187T>C MANE Select	NP_065434.1:p.Leu396Pro
XM_011538183.2:c.1200+252T>C	XP_011536485.1:n.1200+252T>C
XM_011538184.2:c.1220+232T>C	XP_011536486.1:n.1220+232T>C
XM_011538186.3:c.362T>C	XP_011536488.1:p.Leu121Pro
XM_017019179.2:c.1247T>C	XP_016874668.1:p.Leu416Pro
XM_024448938.1:c.1143+252T>C	XP_024304706.1:n.1143+252T>C
XR_002957309.1:n.1155T>C
XR_002957310.1:n.1108+252T>C
XR_002957311.1:n.1155T>C
XR_002957312.1:n.1108+252T>C