Canonical Allele Identifier: CA385094898

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429621-T-C
• COSMIC: COSM5897828
• MyVariant Identifiers: chr12:g.53823405T>C (hg19) ; chr12:g.53429621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429621T>C , CM000674.2:g.53429621T>C	GRCh38
NC_000012.11:g.53823405T>C , CM000674.1:g.53823405T>C	GRCh37
NC_000012.10:g.52109672T>C	NCBI36
NG_015981.1:g.10767T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1136T>C MANE Select	ENSP00000257863.3:p.Met379Thr
ENST00000257863.8:c.1136T>C	ENSP00000257863.3:p.Met379Thr
ENST00000379791.7:c.1136T>C	ENSP00000369117.3:p.Met379Thr
ENST00000550311.5:c.1136T>C	ENSP00000446661.1:p.Met379Thr
ENST00000550839.1:c.227T>C	ENSP00000455338.1:p.Met76Thr
ENST00000552233.5:n.519T>C
NM_001164690.1:c.1136T>C	NP_001158162.1:p.Met379Thr
NM_001164691.1:c.1136T>C	NP_001158163.1:p.Met379Thr
NM_020547.2:c.1136T>C	NP_065434.1:p.Met379Thr
XM_011538173.1:c.1196T>C	XP_011536475.1:p.Met399Thr
XM_011538174.1:c.1193T>C	XP_011536476.1:p.Met398Thr
XM_011538175.1:c.1178T>C	XP_011536477.1:p.Met393Thr
XM_011538176.1:c.1139T>C	XP_011536478.1:p.Met380Thr
XM_011538177.1:c.1118T>C	XP_011536479.1:p.Met373Thr
XM_011538178.1:c.977T>C	XP_011536480.1:p.Met326Thr
XM_011538179.1:c.1196T>C	XP_011536481.1:p.Met399Thr
XM_011538180.1:c.863T>C	XP_011536482.1:p.Met288Thr
XM_011538181.1:c.860T>C	XP_011536483.1:p.Met287Thr
XM_011538182.1:c.785T>C	XP_011536484.1:p.Met262Thr
XM_011538183.1:c.1196T>C	XP_011536485.1:p.Met399Thr
XM_011538184.1:c.1196T>C	XP_011536486.1:p.Met399Thr
XM_011538185.1:c.856-1556T>C	XP_011536487.1:n.856-1556T>C
XM_011538186.1:c.311T>C	XP_011536488.1:p.Met104Thr
NM_001164690.2:c.1136T>C	NP_001158162.1:p.Met379Thr
NM_001164691.2:c.1136T>C	NP_001158163.1:p.Met379Thr
NM_020547.3:c.1136T>C MANE Select	NP_065434.1:p.Met379Thr
XM_011538183.2:c.1196T>C	XP_011536485.1:p.Met399Thr
XM_011538184.2:c.1196T>C	XP_011536486.1:p.Met399Thr
XM_011538186.3:c.311T>C	XP_011536488.1:p.Met104Thr
XM_017019179.2:c.1196T>C	XP_016874668.1:p.Met399Thr
XM_024448938.1:c.1139T>C	XP_024304706.1:p.Met380Thr
XR_002957309.1:n.1104T>C
XR_002957310.1:n.1104T>C
XR_002957311.1:n.1104T>C
XR_002957312.1:n.1104T>C