Canonical Allele Identifier: CA480086957
Gene: AMHR2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.53823722C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.53429938C>G , CM000674.2:g.53429938C>G GRCh38
NC_000012.11:g.53823722C>G , CM000674.1:g.53823722C>G GRCh37
NC_000012.10:g.52109989C>G NCBI36
NG_015981.1:g.11084C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000257863.9:c.1248C>G MANE Select ENSP00000257863.3:p.Leu416=
ENST00000257863.8:c.1248C>G ENSP00000257863.3:p.Leu416=
ENST00000379791.7:c.1140+313C>G ENSP00000369117.3:n.1140+313C>G
ENST00000550311.5:c.1248C>G ENSP00000446661.1:p.Leu416=
ENST00000550839.1:c.339C>G ENSP00000455338.1:p.Leu113=
ENST00000552233.5:n.836C>G
NM_001164690.1:c.1248C>G NP_001158162.1:p.Leu416=
NM_001164691.1:c.1140+313C>G NP_001158163.1:n.1140+313C>G
NM_020547.2:c.1248C>G NP_065434.1:p.Leu416=
XM_011538173.1:c.1308C>G XP_011536475.1:p.Leu436=
XM_011538174.1:c.1305C>G XP_011536476.1:p.Leu435=
XM_011538175.1:c.1290C>G XP_011536477.1:p.Leu430=
XM_011538176.1:c.1251C>G XP_011536478.1:p.Leu417=
XM_011538177.1:c.1230C>G XP_011536479.1:p.Leu410=
XM_011538178.1:c.1089C>G XP_011536480.1:p.Leu363=
XM_011538179.1:c.1200+313C>G XP_011536481.1:n.1200+313C>G
XM_011538180.1:c.975C>G XP_011536482.1:p.Leu325=
XM_011538181.1:c.972C>G XP_011536483.1:p.Leu324=
XM_011538182.1:c.897C>G XP_011536484.1:p.Leu299=
XM_011538183.1:c.1201-208C>G XP_011536485.1:n.1201-208C>G
XM_011538184.1:c.1220+293C>G XP_011536486.1:n.1220+293C>G
XM_011538185.1:c.856-1239C>G XP_011536487.1:n.856-1239C>G
XM_011538186.1:c.423C>G XP_011536488.1:p.Leu141=
NM_001164690.2:c.1248C>G NP_001158162.1:p.Leu416=
NM_001164691.2:c.1140+313C>G NP_001158163.1:n.1140+313C>G
NM_020547.3:c.1248C>G MANE Select NP_065434.1:p.Leu416=
XM_011538183.2:c.1201-208C>G XP_011536485.1:n.1201-208C>G
XM_011538184.2:c.1220+293C>G XP_011536486.1:n.1220+293C>G
XM_011538186.3:c.423C>G XP_011536488.1:p.Leu141=
XM_017019179.2:c.1308C>G XP_016874668.1:p.Leu436=
XM_024448938.1:c.1143+313C>G XP_024304706.1:n.1143+313C>G
XR_002957309.1:n.1216C>G
XR_002957310.1:n.1109-208C>G
XR_002957311.1:n.1216C>G
XR_002957312.1:n.1108+313C>G