Canonical Allele Identifier: CA385095534

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823747C>A (hg19) ; chr12:g.53429963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429963C>A , CM000674.2:g.53429963C>A	GRCh38
NC_000012.11:g.53823747C>A , CM000674.1:g.53823747C>A	GRCh37
NC_000012.10:g.52110014C>A	NCBI36
NG_015981.1:g.11109C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1273C>A MANE Select	ENSP00000257863.3:p.Pro425Thr
ENST00000257863.8:c.1273C>A	ENSP00000257863.3:p.Pro425Thr
ENST00000379791.7:c.1140+338C>A	ENSP00000369117.3:n.1140+338C>A
ENST00000550311.5:c.1273C>A	ENSP00000446661.1:p.Pro425Thr
ENST00000550839.1:c.364C>A	ENSP00000455338.1:p.Pro122Thr
ENST00000552233.5:n.861C>A
NM_001164690.1:c.1273C>A	NP_001158162.1:p.Pro425Thr
NM_001164691.1:c.1140+338C>A	NP_001158163.1:n.1140+338C>A
NM_020547.2:c.1273C>A	NP_065434.1:p.Pro425Thr
XM_011538173.1:c.1333C>A	XP_011536475.1:p.Pro445Thr
XM_011538174.1:c.1330C>A	XP_011536476.1:p.Pro444Thr
XM_011538175.1:c.1315C>A	XP_011536477.1:p.Pro439Thr
XM_011538176.1:c.1276C>A	XP_011536478.1:p.Pro426Thr
XM_011538177.1:c.1255C>A	XP_011536479.1:p.Pro419Thr
XM_011538178.1:c.1114C>A	XP_011536480.1:p.Pro372Thr
XM_011538179.1:c.1200+338C>A	XP_011536481.1:n.1200+338C>A
XM_011538180.1:c.1000C>A	XP_011536482.1:p.Pro334Thr
XM_011538181.1:c.997C>A	XP_011536483.1:p.Pro333Thr
XM_011538182.1:c.922C>A	XP_011536484.1:p.Pro308Thr
XM_011538183.1:c.1201-183C>A	XP_011536485.1:n.1201-183C>A
XM_011538184.1:c.1220+318C>A	XP_011536486.1:n.1220+318C>A
XM_011538185.1:c.856-1214C>A	XP_011536487.1:n.856-1214C>A
XM_011538186.1:c.448C>A	XP_011536488.1:p.Pro150Thr
NM_001164690.2:c.1273C>A	NP_001158162.1:p.Pro425Thr
NM_001164691.2:c.1140+338C>A	NP_001158163.1:n.1140+338C>A
NM_020547.3:c.1273C>A MANE Select	NP_065434.1:p.Pro425Thr
XM_011538183.2:c.1201-183C>A	XP_011536485.1:n.1201-183C>A
XM_011538184.2:c.1220+318C>A	XP_011536486.1:n.1220+318C>A
XM_011538186.3:c.448C>A	XP_011536488.1:p.Pro150Thr
XM_017019179.2:c.1333C>A	XP_016874668.1:p.Pro445Thr
XM_024448938.1:c.1143+338C>A	XP_024304706.1:n.1143+338C>A
XR_002957309.1:n.1241C>A
XR_002957310.1:n.1109-183C>A
XR_002957311.1:n.1241C>A
XR_002957312.1:n.1108+338C>A