Canonical Allele Identifier: CA385094901

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823406G>A (hg19) ; chr12:g.53429622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429622G>A , CM000674.2:g.53429622G>A	GRCh38
NC_000012.11:g.53823406G>A , CM000674.1:g.53823406G>A	GRCh37
NC_000012.10:g.52109673G>A	NCBI36
NG_015981.1:g.10768G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1137G>A MANE Select	ENSP00000257863.3:p.Met379Ile
ENST00000257863.8:c.1137G>A	ENSP00000257863.3:p.Met379Ile
ENST00000379791.7:c.1137G>A	ENSP00000369117.3:p.Met379Ile
ENST00000550311.5:c.1137G>A	ENSP00000446661.1:p.Met379Ile
ENST00000550839.1:c.228G>A	ENSP00000455338.1:p.Met76Ile
ENST00000552233.5:n.520G>A
NM_001164690.1:c.1137G>A	NP_001158162.1:p.Met379Ile
NM_001164691.1:c.1137G>A	NP_001158163.1:p.Met379Ile
NM_020547.2:c.1137G>A	NP_065434.1:p.Met379Ile
XM_011538173.1:c.1197G>A	XP_011536475.1:p.Met399Ile
XM_011538174.1:c.1194G>A	XP_011536476.1:p.Met398Ile
XM_011538175.1:c.1179G>A	XP_011536477.1:p.Met393Ile
XM_011538176.1:c.1140G>A	XP_011536478.1:p.Met380Ile
XM_011538177.1:c.1119G>A	XP_011536479.1:p.Met373Ile
XM_011538178.1:c.978G>A	XP_011536480.1:p.Met326Ile
XM_011538179.1:c.1197G>A	XP_011536481.1:p.Met399Ile
XM_011538180.1:c.864G>A	XP_011536482.1:p.Met288Ile
XM_011538181.1:c.861G>A	XP_011536483.1:p.Met287Ile
XM_011538182.1:c.786G>A	XP_011536484.1:p.Met262Ile
XM_011538183.1:c.1197G>A	XP_011536485.1:p.Met399Ile
XM_011538184.1:c.1197G>A	XP_011536486.1:p.Met399Ile
XM_011538185.1:c.856-1555G>A	XP_011536487.1:n.856-1555G>A
XM_011538186.1:c.312G>A	XP_011536488.1:p.Met104Ile
NM_001164690.2:c.1137G>A	NP_001158162.1:p.Met379Ile
NM_001164691.2:c.1137G>A	NP_001158163.1:p.Met379Ile
NM_020547.3:c.1137G>A MANE Select	NP_065434.1:p.Met379Ile
XM_011538183.2:c.1197G>A	XP_011536485.1:p.Met399Ile
XM_011538184.2:c.1197G>A	XP_011536486.1:p.Met399Ile
XM_011538186.3:c.312G>A	XP_011536488.1:p.Met104Ile
XM_017019179.2:c.1197G>A	XP_016874668.1:p.Met399Ile
XM_024448938.1:c.1140G>A	XP_024304706.1:p.Met380Ile
XR_002957309.1:n.1105G>A
XR_002957310.1:n.1105G>A
XR_002957311.1:n.1105G>A
XR_002957312.1:n.1105G>A