Canonical Allele Identifier: CA385095511

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429958-G-C
• MyVariant Identifiers: chr12:g.53823742G>C (hg19) ; chr12:g.53429958G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429958G>C , CM000674.2:g.53429958G>C	GRCh38
NC_000012.11:g.53823742G>C , CM000674.1:g.53823742G>C	GRCh37
NC_000012.10:g.52110009G>C	NCBI36
NG_015981.1:g.11104G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1268G>C MANE Select	ENSP00000257863.3:p.Arg423Pro
ENST00000257863.8:c.1268G>C	ENSP00000257863.3:p.Arg423Pro
ENST00000379791.7:c.1140+333G>C	ENSP00000369117.3:n.1140+333G>C
ENST00000550311.5:c.1268G>C	ENSP00000446661.1:p.Arg423Pro
ENST00000550839.1:c.359G>C	ENSP00000455338.1:p.Arg120Pro
ENST00000552233.5:n.856G>C
NM_001164690.1:c.1268G>C	NP_001158162.1:p.Arg423Pro
NM_001164691.1:c.1140+333G>C	NP_001158163.1:n.1140+333G>C
NM_020547.2:c.1268G>C	NP_065434.1:p.Arg423Pro
XM_011538173.1:c.1328G>C	XP_011536475.1:p.Arg443Pro
XM_011538174.1:c.1325G>C	XP_011536476.1:p.Arg442Pro
XM_011538175.1:c.1310G>C	XP_011536477.1:p.Arg437Pro
XM_011538176.1:c.1271G>C	XP_011536478.1:p.Arg424Pro
XM_011538177.1:c.1250G>C	XP_011536479.1:p.Arg417Pro
XM_011538178.1:c.1109G>C	XP_011536480.1:p.Arg370Pro
XM_011538179.1:c.1200+333G>C	XP_011536481.1:n.1200+333G>C
XM_011538180.1:c.995G>C	XP_011536482.1:p.Arg332Pro
XM_011538181.1:c.992G>C	XP_011536483.1:p.Arg331Pro
XM_011538182.1:c.917G>C	XP_011536484.1:p.Arg306Pro
XM_011538183.1:c.1201-188G>C	XP_011536485.1:n.1201-188G>C
XM_011538184.1:c.1220+313G>C	XP_011536486.1:n.1220+313G>C
XM_011538185.1:c.856-1219G>C	XP_011536487.1:n.856-1219G>C
XM_011538186.1:c.443G>C	XP_011536488.1:p.Arg148Pro
NM_001164690.2:c.1268G>C	NP_001158162.1:p.Arg423Pro
NM_001164691.2:c.1140+333G>C	NP_001158163.1:n.1140+333G>C
NM_020547.3:c.1268G>C MANE Select	NP_065434.1:p.Arg423Pro
XM_011538183.2:c.1201-188G>C	XP_011536485.1:n.1201-188G>C
XM_011538184.2:c.1220+313G>C	XP_011536486.1:n.1220+313G>C
XM_011538186.3:c.443G>C	XP_011536488.1:p.Arg148Pro
XM_017019179.2:c.1328G>C	XP_016874668.1:p.Arg443Pro
XM_024448938.1:c.1143+333G>C	XP_024304706.1:n.1143+333G>C
XR_002957309.1:n.1236G>C
XR_002957310.1:n.1109-188G>C
XR_002957311.1:n.1236G>C
XR_002957312.1:n.1108+333G>C