Canonical Allele Identifier: CA385095266

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823683G>A (hg19) ; chr12:g.53429899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429899G>A , CM000674.2:g.53429899G>A	GRCh38
NC_000012.11:g.53823683G>A , CM000674.1:g.53823683G>A	GRCh37
NC_000012.10:g.52109950G>A	NCBI36
NG_015981.1:g.11045G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1209G>A MANE Select	ENSP00000257863.3:p.Met403Ile
ENST00000257863.8:c.1209G>A	ENSP00000257863.3:p.Met403Ile
ENST00000379791.7:c.1140+274G>A	ENSP00000369117.3:n.1140+274G>A
ENST00000550311.5:c.1209G>A	ENSP00000446661.1:p.Met403Ile
ENST00000550839.1:c.300G>A	ENSP00000455338.1:p.Met100Ile
ENST00000552233.5:n.797G>A
NM_001164690.1:c.1209G>A	NP_001158162.1:p.Met403Ile
NM_001164691.1:c.1140+274G>A	NP_001158163.1:n.1140+274G>A
NM_020547.2:c.1209G>A	NP_065434.1:p.Met403Ile
XM_011538173.1:c.1269G>A	XP_011536475.1:p.Met423Ile
XM_011538174.1:c.1266G>A	XP_011536476.1:p.Met422Ile
XM_011538175.1:c.1251G>A	XP_011536477.1:p.Met417Ile
XM_011538176.1:c.1212G>A	XP_011536478.1:p.Met404Ile
XM_011538177.1:c.1191G>A	XP_011536479.1:p.Met397Ile
XM_011538178.1:c.1050G>A	XP_011536480.1:p.Met350Ile
XM_011538179.1:c.1200+274G>A	XP_011536481.1:n.1200+274G>A
XM_011538180.1:c.936G>A	XP_011536482.1:p.Met312Ile
XM_011538181.1:c.933G>A	XP_011536483.1:p.Met311Ile
XM_011538182.1:c.858G>A	XP_011536484.1:p.Met286Ile
XM_011538183.1:c.1201-247G>A	XP_011536485.1:n.1201-247G>A
XM_011538184.1:c.1220+254G>A	XP_011536486.1:n.1220+254G>A
XM_011538185.1:c.856-1278G>A	XP_011536487.1:n.856-1278G>A
XM_011538186.1:c.384G>A	XP_011536488.1:p.Met128Ile
NM_001164690.2:c.1209G>A	NP_001158162.1:p.Met403Ile
NM_001164691.2:c.1140+274G>A	NP_001158163.1:n.1140+274G>A
NM_020547.3:c.1209G>A MANE Select	NP_065434.1:p.Met403Ile
XM_011538183.2:c.1201-247G>A	XP_011536485.1:n.1201-247G>A
XM_011538184.2:c.1220+254G>A	XP_011536486.1:n.1220+254G>A
XM_011538186.3:c.384G>A	XP_011536488.1:p.Met128Ile
XM_017019179.2:c.1269G>A	XP_016874668.1:p.Met423Ile
XM_024448938.1:c.1143+274G>A	XP_024304706.1:n.1143+274G>A
XR_002957309.1:n.1177G>A
XR_002957310.1:n.1109-247G>A
XR_002957311.1:n.1177G>A
XR_002957312.1:n.1108+274G>A