Canonical Allele Identifier: CA385095495

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823739G>A (hg19) ; chr12:g.53429955G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429955G>A , CM000674.2:g.53429955G>A	GRCh38
NC_000012.11:g.53823739G>A , CM000674.1:g.53823739G>A	GRCh37
NC_000012.10:g.52110006G>A	NCBI36
NG_015981.1:g.11101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1265G>A MANE Select	ENSP00000257863.3:p.Ser422Asn
ENST00000257863.8:c.1265G>A	ENSP00000257863.3:p.Ser422Asn
ENST00000379791.7:c.1140+330G>A	ENSP00000369117.3:n.1140+330G>A
ENST00000550311.5:c.1265G>A	ENSP00000446661.1:p.Ser422Asn
ENST00000550839.1:c.356G>A	ENSP00000455338.1:p.Ser119Asn
ENST00000552233.5:n.853G>A
NM_001164690.1:c.1265G>A	NP_001158162.1:p.Ser422Asn
NM_001164691.1:c.1140+330G>A	NP_001158163.1:n.1140+330G>A
NM_020547.2:c.1265G>A	NP_065434.1:p.Ser422Asn
XM_011538173.1:c.1325G>A	XP_011536475.1:p.Ser442Asn
XM_011538174.1:c.1322G>A	XP_011536476.1:p.Ser441Asn
XM_011538175.1:c.1307G>A	XP_011536477.1:p.Ser436Asn
XM_011538176.1:c.1268G>A	XP_011536478.1:p.Ser423Asn
XM_011538177.1:c.1247G>A	XP_011536479.1:p.Ser416Asn
XM_011538178.1:c.1106G>A	XP_011536480.1:p.Ser369Asn
XM_011538179.1:c.1200+330G>A	XP_011536481.1:n.1200+330G>A
XM_011538180.1:c.992G>A	XP_011536482.1:p.Ser331Asn
XM_011538181.1:c.989G>A	XP_011536483.1:p.Ser330Asn
XM_011538182.1:c.914G>A	XP_011536484.1:p.Ser305Asn
XM_011538183.1:c.1201-191G>A	XP_011536485.1:n.1201-191G>A
XM_011538184.1:c.1220+310G>A	XP_011536486.1:n.1220+310G>A
XM_011538185.1:c.856-1222G>A	XP_011536487.1:n.856-1222G>A
XM_011538186.1:c.440G>A	XP_011536488.1:p.Ser147Asn
NM_001164690.2:c.1265G>A	NP_001158162.1:p.Ser422Asn
NM_001164691.2:c.1140+330G>A	NP_001158163.1:n.1140+330G>A
NM_020547.3:c.1265G>A MANE Select	NP_065434.1:p.Ser422Asn
XM_011538183.2:c.1201-191G>A	XP_011536485.1:n.1201-191G>A
XM_011538184.2:c.1220+310G>A	XP_011536486.1:n.1220+310G>A
XM_011538186.3:c.440G>A	XP_011536488.1:p.Ser147Asn
XM_017019179.2:c.1325G>A	XP_016874668.1:p.Ser442Asn
XM_024448938.1:c.1143+330G>A	XP_024304706.1:n.1143+330G>A
XR_002957309.1:n.1233G>A
XR_002957310.1:n.1109-191G>A
XR_002957311.1:n.1233G>A
XR_002957312.1:n.1108+330G>A