Canonical Allele Identifier: CA2212010426
Gene: ACSM2A HGNC NCBI

Linked Data

dbSNP Id: rs2013977923

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20479755A>G , CM000678.2:g.20479755A>G GRCh38
NC_000016.9:g.20491077A>G , CM000678.1:g.20491077A>G GRCh37
NC_000016.8:g.20398578A>G NCBI36
NG_054721.1:g.33295A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000573854.6:c.1282-818A>G MANE Select ENSP00000459451.1:n.1282-818A>G
ENST00000219054.10:c.1282-818A>G ENSP00000219054.6:n.1282-818A>G
ENST00000396104.2:c.1282-818A>G ENSP00000379411.2:n.1282-818A>G
ENST00000417235.6:c.1045-818A>G ENSP00000392169.2:n.1045-818A>G
ENST00000570698.5:n.1457-818A>G
ENST00000572843.5:n.1477-818A>G
ENST00000573854.5:c.1282-818A>G ENSP00000459451.1:n.1282-818A>G
ENST00000575558.5:n.1211-818A>G
ENST00000575690.5:c.1282-818A>G ENSP00000460349.1:n.1282-818A>G
ENST00000576101.1:n.1034-818A>G
NM_001010845.2:c.1282-818A>G NP_001010845.1:n.1282-818A>G
NM_001308169.1:c.1045-818A>G NP_001295098.1:n.1045-818A>G
NM_001308172.1:c.1282-818A>G NP_001295101.1:n.1282-818A>G
NM_001308954.1:c.1282-818A>G NP_001295883.1:n.1282-818A>G
XR_243259.2:n.2282-818A>G
XM_017022923.1:c.1282-818A>G XP_016878412.1:n.1282-818A>G
XM_017022924.2:c.*681A>G XP_016878413.1:n.*681A>G
XM_017022925.1:c.1045-818A>G XP_016878414.1:n.1045-818A>G
XM_017022926.2:c.595-818A>G XP_016878415.1:n.595-818A>G
XR_001751834.2:n.2491-818A>G
NM_001308172.2:c.1282-818A>G MANE Select NP_001295101.1:n.1282-818A>G
NM_001308169.2:c.1045-818A>G NP_001295098.1:n.1045-818A>G
NM_001308954.2:c.1282-818A>G NP_001295883.1:n.1282-818A>G