Canonical Allele Identifier: CA385095340

Gene: AMHR2

Linked Data

• gnomAD v4: 12-53429918-A-G
• MyVariant Identifiers: chr12:g.53823702A>G (hg19) ; chr12:g.53429918A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429918A>G , CM000674.2:g.53429918A>G	GRCh38
NC_000012.11:g.53823702A>G , CM000674.1:g.53823702A>G	GRCh37
NC_000012.10:g.52109969A>G	NCBI36
NG_015981.1:g.11064A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000257863.9:c.1228A>G MANE Select	ENSP00000257863.3:p.Ile410Val
ENST00000257863.8:c.1228A>G	ENSP00000257863.3:p.Ile410Val
ENST00000379791.7:c.1140+293A>G	ENSP00000369117.3:n.1140+293A>G
ENST00000550311.5:c.1228A>G	ENSP00000446661.1:p.Ile410Val
ENST00000550839.1:c.319A>G	ENSP00000455338.1:p.Ile107Val
ENST00000552233.5:n.816A>G
NM_001164690.1:c.1228A>G	NP_001158162.1:p.Ile410Val
NM_001164691.1:c.1140+293A>G	NP_001158163.1:n.1140+293A>G
NM_020547.2:c.1228A>G	NP_065434.1:p.Ile410Val
XM_011538173.1:c.1288A>G	XP_011536475.1:p.Ile430Val
XM_011538174.1:c.1285A>G	XP_011536476.1:p.Ile429Val
XM_011538175.1:c.1270A>G	XP_011536477.1:p.Ile424Val
XM_011538176.1:c.1231A>G	XP_011536478.1:p.Ile411Val
XM_011538177.1:c.1210A>G	XP_011536479.1:p.Ile404Val
XM_011538178.1:c.1069A>G	XP_011536480.1:p.Ile357Val
XM_011538179.1:c.1200+293A>G	XP_011536481.1:n.1200+293A>G
XM_011538180.1:c.955A>G	XP_011536482.1:p.Ile319Val
XM_011538181.1:c.952A>G	XP_011536483.1:p.Ile318Val
XM_011538182.1:c.877A>G	XP_011536484.1:p.Ile293Val
XM_011538183.1:c.1201-228A>G	XP_011536485.1:n.1201-228A>G
XM_011538184.1:c.1220+273A>G	XP_011536486.1:n.1220+273A>G
XM_011538185.1:c.856-1259A>G	XP_011536487.1:n.856-1259A>G
XM_011538186.1:c.403A>G	XP_011536488.1:p.Ile135Val
NM_001164690.2:c.1228A>G	NP_001158162.1:p.Ile410Val
NM_001164691.2:c.1140+293A>G	NP_001158163.1:n.1140+293A>G
NM_020547.3:c.1228A>G MANE Select	NP_065434.1:p.Ile410Val
XM_011538183.2:c.1201-228A>G	XP_011536485.1:n.1201-228A>G
XM_011538184.2:c.1220+273A>G	XP_011536486.1:n.1220+273A>G
XM_011538186.3:c.403A>G	XP_011536488.1:p.Ile135Val
XM_017019179.2:c.1288A>G	XP_016874668.1:p.Ile430Val
XM_024448938.1:c.1143+293A>G	XP_024304706.1:n.1143+293A>G
XR_002957309.1:n.1196A>G
XR_002957310.1:n.1109-228A>G
XR_002957311.1:n.1196A>G
XR_002957312.1:n.1108+293A>G