Canonical Allele Identifier: CA385095121

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823646T>C (hg19) ; chr12:g.53429862T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429862T>C , CM000674.2:g.53429862T>C	GRCh38
NC_000012.11:g.53823646T>C , CM000674.1:g.53823646T>C	GRCh37
NC_000012.10:g.52109913T>C	NCBI36
NG_015981.1:g.11008T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1172T>C MANE Select	ENSP00000257863.3:p.Leu391Pro
ENST00000257863.8:c.1172T>C	ENSP00000257863.3:p.Leu391Pro
ENST00000379791.7:c.1140+237T>C	ENSP00000369117.3:n.1140+237T>C
ENST00000550311.5:c.1172T>C	ENSP00000446661.1:p.Leu391Pro
ENST00000550839.1:c.263T>C	ENSP00000455338.1:p.Leu88Pro
ENST00000552233.5:n.760T>C
NM_001164690.1:c.1172T>C	NP_001158162.1:p.Leu391Pro
NM_001164691.1:c.1140+237T>C	NP_001158163.1:n.1140+237T>C
NM_020547.2:c.1172T>C	NP_065434.1:p.Leu391Pro
XM_011538173.1:c.1232T>C	XP_011536475.1:p.Leu411Pro
XM_011538174.1:c.1229T>C	XP_011536476.1:p.Leu410Pro
XM_011538175.1:c.1214T>C	XP_011536477.1:p.Leu405Pro
XM_011538176.1:c.1175T>C	XP_011536478.1:p.Leu392Pro
XM_011538177.1:c.1154T>C	XP_011536479.1:p.Leu385Pro
XM_011538178.1:c.1013T>C	XP_011536480.1:p.Leu338Pro
XM_011538179.1:c.1200+237T>C	XP_011536481.1:n.1200+237T>C
XM_011538180.1:c.899T>C	XP_011536482.1:p.Leu300Pro
XM_011538181.1:c.896T>C	XP_011536483.1:p.Leu299Pro
XM_011538182.1:c.821T>C	XP_011536484.1:p.Leu274Pro
XM_011538183.1:c.1200+237T>C	XP_011536485.1:n.1200+237T>C
XM_011538184.1:c.1220+217T>C	XP_011536486.1:n.1220+217T>C
XM_011538185.1:c.856-1315T>C	XP_011536487.1:n.856-1315T>C
XM_011538186.1:c.347T>C	XP_011536488.1:p.Leu116Pro
NM_001164690.2:c.1172T>C	NP_001158162.1:p.Leu391Pro
NM_001164691.2:c.1140+237T>C	NP_001158163.1:n.1140+237T>C
NM_020547.3:c.1172T>C MANE Select	NP_065434.1:p.Leu391Pro
XM_011538183.2:c.1200+237T>C	XP_011536485.1:n.1200+237T>C
XM_011538184.2:c.1220+217T>C	XP_011536486.1:n.1220+217T>C
XM_011538186.3:c.347T>C	XP_011536488.1:p.Leu116Pro
XM_017019179.2:c.1232T>C	XP_016874668.1:p.Leu411Pro
XM_024448938.1:c.1143+237T>C	XP_024304706.1:n.1143+237T>C
XR_002957309.1:n.1140T>C
XR_002957310.1:n.1108+237T>C
XR_002957311.1:n.1140T>C
XR_002957312.1:n.1108+237T>C