Canonical Allele Identifier: CA480086744
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823620C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429836C>G , CM000674.2:g.53429836C>G GRCh38
NC_000012.11:g.53823620C>G , CM000674.1:g.53823620C>G GRCh37
NC_000012.10:g.52109887C>G NCBI36
NG_015981.1:g.10982C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1146C>G MANE Select ENSP00000257863.3:p.Gly382=
ENST00000257863.8:c.1146C>G ENSP00000257863.3:p.Gly382=
ENST00000379791.7:c.1140+211C>G ENSP00000369117.3:n.1140+211C>G
ENST00000550311.5:c.1146C>G ENSP00000446661.1:p.Gly382=
ENST00000550839.1:c.237C>G ENSP00000455338.1:p.Gly79=
ENST00000552233.5:n.734C>G
NM_001164690.1:c.1146C>G NP_001158162.1:p.Gly382=
NM_001164691.1:c.1140+211C>G NP_001158163.1:n.1140+211C>G
NM_020547.2:c.1146C>G NP_065434.1:p.Gly382=
XM_011538173.1:c.1206C>G XP_011536475.1:p.Gly402=
XM_011538174.1:c.1203C>G XP_011536476.1:p.Gly401=
XM_011538175.1:c.1188C>G XP_011536477.1:p.Gly396=
XM_011538176.1:c.1149C>G XP_011536478.1:p.Gly383=
XM_011538177.1:c.1128C>G XP_011536479.1:p.Gly376=
XM_011538178.1:c.987C>G XP_011536480.1:p.Gly329=
XM_011538179.1:c.1200+211C>G XP_011536481.1:n.1200+211C>G
XM_011538180.1:c.873C>G XP_011536482.1:p.Gly291=
XM_011538181.1:c.870C>G XP_011536483.1:p.Gly290=
XM_011538182.1:c.795C>G XP_011536484.1:p.Gly265=
XM_011538183.1:c.1200+211C>G XP_011536485.1:n.1200+211C>G
XM_011538184.1:c.1220+191C>G XP_011536486.1:n.1220+191C>G
XM_011538185.1:c.856-1341C>G XP_011536487.1:n.856-1341C>G
XM_011538186.1:c.321C>G XP_011536488.1:p.Gly107=
NM_001164690.2:c.1146C>G NP_001158162.1:p.Gly382=
NM_001164691.2:c.1140+211C>G NP_001158163.1:n.1140+211C>G
NM_020547.3:c.1146C>G MANE Select NP_065434.1:p.Gly382=
XM_011538183.2:c.1200+211C>G XP_011536485.1:n.1200+211C>G
XM_011538184.2:c.1220+191C>G XP_011536486.1:n.1220+191C>G
XM_011538186.3:c.321C>G XP_011536488.1:p.Gly107=
XM_017019179.2:c.1206C>G XP_016874668.1:p.Gly402=
XM_024448938.1:c.1143+211C>G XP_024304706.1:n.1143+211C>G
XR_002957309.1:n.1114C>G
XR_002957310.1:n.1108+211C>G
XR_002957311.1:n.1114C>G
XR_002957312.1:n.1108+211C>G