Canonical Allele Identifier: CA385095202

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429879-G-T
• MyVariant Identifiers: chr12:g.53823663G>T (hg19) ; chr12:g.53429879G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429879G>T , CM000674.2:g.53429879G>T	GRCh38
NC_000012.11:g.53823663G>T , CM000674.1:g.53823663G>T	GRCh37
NC_000012.10:g.52109930G>T	NCBI36
NG_015981.1:g.11025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1189G>T MANE Select	ENSP00000257863.3:p.Asp397Tyr
ENST00000257863.8:c.1189G>T	ENSP00000257863.3:p.Asp397Tyr
ENST00000379791.7:c.1140+254G>T	ENSP00000369117.3:n.1140+254G>T
ENST00000550311.5:c.1189G>T	ENSP00000446661.1:p.Asp397Tyr
ENST00000550839.1:c.280G>T	ENSP00000455338.1:p.Asp94Tyr
ENST00000552233.5:n.777G>T
NM_001164690.1:c.1189G>T	NP_001158162.1:p.Asp397Tyr
NM_001164691.1:c.1140+254G>T	NP_001158163.1:n.1140+254G>T
NM_020547.2:c.1189G>T	NP_065434.1:p.Asp397Tyr
XM_011538173.1:c.1249G>T	XP_011536475.1:p.Asp417Tyr
XM_011538174.1:c.1246G>T	XP_011536476.1:p.Asp416Tyr
XM_011538175.1:c.1231G>T	XP_011536477.1:p.Asp411Tyr
XM_011538176.1:c.1192G>T	XP_011536478.1:p.Asp398Tyr
XM_011538177.1:c.1171G>T	XP_011536479.1:p.Asp391Tyr
XM_011538178.1:c.1030G>T	XP_011536480.1:p.Asp344Tyr
XM_011538179.1:c.1200+254G>T	XP_011536481.1:n.1200+254G>T
XM_011538180.1:c.916G>T	XP_011536482.1:p.Asp306Tyr
XM_011538181.1:c.913G>T	XP_011536483.1:p.Asp305Tyr
XM_011538182.1:c.838G>T	XP_011536484.1:p.Asp280Tyr
XM_011538183.1:c.1200+254G>T	XP_011536485.1:n.1200+254G>T
XM_011538184.1:c.1220+234G>T	XP_011536486.1:n.1220+234G>T
XM_011538185.1:c.856-1298G>T	XP_011536487.1:n.856-1298G>T
XM_011538186.1:c.364G>T	XP_011536488.1:p.Asp122Tyr
NM_001164690.2:c.1189G>T	NP_001158162.1:p.Asp397Tyr
NM_001164691.2:c.1140+254G>T	NP_001158163.1:n.1140+254G>T
NM_020547.3:c.1189G>T MANE Select	NP_065434.1:p.Asp397Tyr
XM_011538183.2:c.1200+254G>T	XP_011536485.1:n.1200+254G>T
XM_011538184.2:c.1220+234G>T	XP_011536486.1:n.1220+234G>T
XM_011538186.3:c.364G>T	XP_011536488.1:p.Asp122Tyr
XM_017019179.2:c.1249G>T	XP_016874668.1:p.Asp417Tyr
XM_024448938.1:c.1143+254G>T	XP_024304706.1:n.1143+254G>T
XR_002957309.1:n.1157G>T
XR_002957310.1:n.1108+254G>T
XR_002957311.1:n.1157G>T
XR_002957312.1:n.1108+254G>T