Canonical Allele Identifier: CA385095594

Gene: AMHR2

Linked Data

• MyVariant Identifiers: chr12:g.53823759C>G (hg19) ; chr12:g.53429975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.53429975C>G , CM000674.2:g.53429975C>G	GRCh38
NC_000012.11:g.53823759C>G , CM000674.1:g.53823759C>G	GRCh37
NC_000012.10:g.52110026C>G	NCBI36
NG_015981.1:g.11121C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257863.9:c.1285C>G MANE Select	ENSP00000257863.3:p.Pro429Ala
ENST00000257863.8:c.1285C>G	ENSP00000257863.3:p.Pro429Ala
ENST00000379791.7:c.1140+350C>G	ENSP00000369117.3:n.1140+350C>G
ENST00000550311.5:c.1285C>G	ENSP00000446661.1:p.Pro429Ala
ENST00000550839.1:c.376C>G	ENSP00000455338.1:p.Pro126Ala
ENST00000552233.5:n.873C>G
NM_001164690.1:c.1285C>G	NP_001158162.1:p.Pro429Ala
NM_001164691.1:c.1140+350C>G	NP_001158163.1:n.1140+350C>G
NM_020547.2:c.1285C>G	NP_065434.1:p.Pro429Ala
XM_011538173.1:c.1345C>G	XP_011536475.1:p.Pro449Ala
XM_011538174.1:c.1342C>G	XP_011536476.1:p.Pro448Ala
XM_011538175.1:c.1327C>G	XP_011536477.1:p.Pro443Ala
XM_011538176.1:c.1288C>G	XP_011536478.1:p.Pro430Ala
XM_011538177.1:c.1267C>G	XP_011536479.1:p.Pro423Ala
XM_011538178.1:c.1126C>G	XP_011536480.1:p.Pro376Ala
XM_011538179.1:c.1200+350C>G	XP_011536481.1:n.1200+350C>G
XM_011538180.1:c.1012C>G	XP_011536482.1:p.Pro338Ala
XM_011538181.1:c.1009C>G	XP_011536483.1:p.Pro337Ala
XM_011538182.1:c.934C>G	XP_011536484.1:p.Pro312Ala
XM_011538183.1:c.1201-171C>G	XP_011536485.1:n.1201-171C>G
XM_011538184.1:c.1220+330C>G	XP_011536486.1:n.1220+330C>G
XM_011538185.1:c.856-1202C>G	XP_011536487.1:n.856-1202C>G
XM_011538186.1:c.460C>G	XP_011536488.1:p.Pro154Ala
NM_001164690.2:c.1285C>G	NP_001158162.1:p.Pro429Ala
NM_001164691.2:c.1140+350C>G	NP_001158163.1:n.1140+350C>G
NM_020547.3:c.1285C>G MANE Select	NP_065434.1:p.Pro429Ala
XM_011538183.2:c.1201-171C>G	XP_011536485.1:n.1201-171C>G
XM_011538184.2:c.1220+330C>G	XP_011536486.1:n.1220+330C>G
XM_011538186.3:c.460C>G	XP_011536488.1:p.Pro154Ala
XM_017019179.2:c.1345C>G	XP_016874668.1:p.Pro449Ala
XM_024448938.1:c.1143+350C>G	XP_024304706.1:n.1143+350C>G
XR_002957309.1:n.1253C>G
XR_002957310.1:n.1109-171C>G
XR_002957311.1:n.1253C>G
XR_002957312.1:n.1108+350C>G