Canonical Allele Identifier: CA356571
Gene: ALS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 208554
ClinVar RCV Id: RCV000034989
dbSNP Id: rs386134186

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201723325C>G , CM000664.2:g.201723325C>G GRCh38
NC_000002.11:g.202588048C>G , CM000664.1:g.202588048C>G GRCh37
NC_000002.10:g.202296293C>G NCBI36
NG_008775.1:g.62848G>C

Transcript Alleles

HGVS Amino-acid change
NM_020919.3:c.3624+5G>C VV NP_065970.2:p.=
XM_005246709.2:c.3624+5G>C XP_005246766.1:p.=
XM_006712654.1:c.3624+5G>C XP_006712717.1:p.=
XM_006712655.2:c.1560+5G>C XP_006712718.1:p.=
XM_011511530.1:c.3285+5G>C XP_011509832.1:p.=
XM_011511531.1:c.3624+5G>C XP_011509833.1:p.=
XR_922974.1:n.3759+5G>C
XM_006712654.3:c.3624+5G>C XP_006712717.1:p.=
XM_006712655.3:c.1560+5G>C XP_006712718.1:p.=
XM_017004569.2:c.3624+5G>C XP_016860058.1:p.=
XM_017004570.2:c.3624+5G>C XP_016860059.1:p.=
XM_017004572.2:c.1242+5G>C XP_016860061.1:p.=
XM_024453024.1:c.3285+5G>C XP_024308792.1:p.=
XM_024453025.1:c.1560+5G>C XP_024308793.1:p.=
XR_001738864.2:n.3759+5G>C
XR_001738865.2:n.3759+5G>C
XR_001738866.2:n.3759+5G>C
XR_001738867.2:n.3759+5G>C
XR_002959320.1:n.2815+5G>C
NM_020919.4:c.3624+5G>C VV MANE Preferred NP_065970.2:p.=
ENST00000264276.10:c.3624+5G>C ENSP00000264276.6:p.=
ENST00000439495.5:n.1585+5G>C
ENST00000482891.5:n.3764+5G>C
ENST00000489440.5:n.445+5G>C