Canonical Allele Identifier: CA718951412

Gene: ACSM2A

Linked Data

• dbSNP Id: rs1224383310
• gnomAD v3: 16-20479587-A-G
• gnomAD v4: 16-20479587-A-G
• MyVariant Identifiers: chr16:g.20490909A>G (hg19) ; chr16:g.20479587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479587A>G , CM000678.2:g.20479587A>G	GRCh38
NC_000016.9:g.20490909A>G , CM000678.1:g.20490909A>G	GRCh37
NC_000016.8:g.20398410A>G	NCBI36
NG_054721.1:g.33127A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+910A>G MANE Select	ENSP00000459451.1:n.1281+910A>G
ENST00000219054.10:c.1281+910A>G	ENSP00000219054.6:n.1281+910A>G
ENST00000396104.2:c.1281+910A>G	ENSP00000379411.2:n.1281+910A>G
ENST00000417235.6:c.1044+910A>G	ENSP00000392169.2:n.1044+910A>G
ENST00000570698.5:n.1456+910A>G
ENST00000572843.5:n.1476+910A>G
ENST00000573854.5:c.1281+910A>G	ENSP00000459451.1:n.1281+910A>G
ENST00000575558.5:n.1210+910A>G
ENST00000575690.5:c.1281+910A>G	ENSP00000460349.1:n.1281+910A>G
ENST00000576101.1:n.1033+910A>G
NM_001010845.2:c.1281+910A>G	NP_001010845.1:n.1281+910A>G
NM_001308169.1:c.1044+910A>G	NP_001295098.1:n.1044+910A>G
NM_001308172.1:c.1281+910A>G	NP_001295101.1:n.1281+910A>G
NM_001308954.1:c.1281+910A>G	NP_001295883.1:n.1281+910A>G
XR_243259.2:n.2281+910A>G
XM_017022923.1:c.1281+910A>G	XP_016878412.1:n.1281+910A>G
XM_017022924.2:c.*513A>G	XP_016878413.1:n.*513A>G
XM_017022925.1:c.1044+910A>G	XP_016878414.1:n.1044+910A>G
XM_017022926.2:c.594+910A>G	XP_016878415.1:n.594+910A>G
XR_001751834.2:n.2490+910A>G
NM_001308172.2:c.1281+910A>G MANE Select	NP_001295101.1:n.1281+910A>G
NM_001308169.2:c.1044+910A>G	NP_001295098.1:n.1044+910A>G
NM_001308954.2:c.1281+910A>G	NP_001295883.1:n.1281+910A>G