Canonical Allele Identifier: CA2732001883
Gene: ACSM2A HGNC NCBI

Linked Data

dbSNP Id: rs2141755610

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.20479769G>A , CM000678.2:g.20479769G>A GRCh38
NC_000016.9:g.20491091G>A , CM000678.1:g.20491091G>A GRCh37
NC_000016.8:g.20398592G>A NCBI36
NG_054721.1:g.33309G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000573854.6:c.1282-804G>A MANE Select ENSP00000459451.1:n.1282-804G>A
ENST00000219054.10:c.1282-804G>A ENSP00000219054.6:n.1282-804G>A
ENST00000396104.2:c.1282-804G>A ENSP00000379411.2:n.1282-804G>A
ENST00000417235.6:c.1045-804G>A ENSP00000392169.2:n.1045-804G>A
ENST00000570698.5:n.1457-804G>A
ENST00000572843.5:n.1477-804G>A
ENST00000573854.5:c.1282-804G>A ENSP00000459451.1:n.1282-804G>A
ENST00000575558.5:n.1211-804G>A
ENST00000575690.5:c.1282-804G>A ENSP00000460349.1:n.1282-804G>A
ENST00000576101.1:n.1034-804G>A
NM_001010845.2:c.1282-804G>A NP_001010845.1:n.1282-804G>A
NM_001308169.1:c.1045-804G>A NP_001295098.1:n.1045-804G>A
NM_001308172.1:c.1282-804G>A NP_001295101.1:n.1282-804G>A
NM_001308954.1:c.1282-804G>A NP_001295883.1:n.1282-804G>A
XR_243259.2:n.2282-804G>A
XM_017022923.1:c.1282-804G>A XP_016878412.1:n.1282-804G>A
XM_017022924.2:c.*695G>A XP_016878413.1:n.*695G>A
XM_017022925.1:c.1045-804G>A XP_016878414.1:n.1045-804G>A
XM_017022926.2:c.595-804G>A XP_016878415.1:n.595-804G>A
XR_001751834.2:n.2491-804G>A
NM_001308172.2:c.1282-804G>A MANE Select NP_001295101.1:n.1282-804G>A
NM_001308169.2:c.1045-804G>A NP_001295098.1:n.1045-804G>A
NM_001308954.2:c.1282-804G>A NP_001295883.1:n.1282-804G>A