Canonical Allele Identifier: CA385094889

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429620-A-C
• MyVariant Identifiers: chr12:g.53823404A>C (hg19) ; chr12:g.53429620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429620A>C , CM000674.2:g.53429620A>C	GRCh38
NC_000012.11:g.53823404A>C , CM000674.1:g.53823404A>C	GRCh37
NC_000012.10:g.52109671A>C	NCBI36
NG_015981.1:g.10766A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1135A>C MANE Select	ENSP00000257863.3:p.Met379Leu
ENST00000257863.8:c.1135A>C	ENSP00000257863.3:p.Met379Leu
ENST00000379791.7:c.1135A>C	ENSP00000369117.3:p.Met379Leu
ENST00000550311.5:c.1135A>C	ENSP00000446661.1:p.Met379Leu
ENST00000550839.1:c.226A>C	ENSP00000455338.1:p.Met76Leu
ENST00000552233.5:n.518A>C
NM_001164690.1:c.1135A>C	NP_001158162.1:p.Met379Leu
NM_001164691.1:c.1135A>C	NP_001158163.1:p.Met379Leu
NM_020547.2:c.1135A>C	NP_065434.1:p.Met379Leu
XM_011538173.1:c.1195A>C	XP_011536475.1:p.Met399Leu
XM_011538174.1:c.1192A>C	XP_011536476.1:p.Met398Leu
XM_011538175.1:c.1177A>C	XP_011536477.1:p.Met393Leu
XM_011538176.1:c.1138A>C	XP_011536478.1:p.Met380Leu
XM_011538177.1:c.1117A>C	XP_011536479.1:p.Met373Leu
XM_011538178.1:c.976A>C	XP_011536480.1:p.Met326Leu
XM_011538179.1:c.1195A>C	XP_011536481.1:p.Met399Leu
XM_011538180.1:c.862A>C	XP_011536482.1:p.Met288Leu
XM_011538181.1:c.859A>C	XP_011536483.1:p.Met287Leu
XM_011538182.1:c.784A>C	XP_011536484.1:p.Met262Leu
XM_011538183.1:c.1195A>C	XP_011536485.1:p.Met399Leu
XM_011538184.1:c.1195A>C	XP_011536486.1:p.Met399Leu
XM_011538185.1:c.856-1557A>C	XP_011536487.1:n.856-1557A>C
XM_011538186.1:c.310A>C	XP_011536488.1:p.Met104Leu
NM_001164690.2:c.1135A>C	NP_001158162.1:p.Met379Leu
NM_001164691.2:c.1135A>C	NP_001158163.1:p.Met379Leu
NM_020547.3:c.1135A>C MANE Select	NP_065434.1:p.Met379Leu
XM_011538183.2:c.1195A>C	XP_011536485.1:p.Met399Leu
XM_011538184.2:c.1195A>C	XP_011536486.1:p.Met399Leu
XM_011538186.3:c.310A>C	XP_011536488.1:p.Met104Leu
XM_017019179.2:c.1195A>C	XP_016874668.1:p.Met399Leu
XM_024448938.1:c.1138A>C	XP_024304706.1:p.Met380Leu
XR_002957309.1:n.1103A>C
XR_002957310.1:n.1103A>C
XR_002957311.1:n.1103A>C
XR_002957312.1:n.1103A>C