Canonical Allele Identifier: CA975471348

Gene: ACSM2A

Linked Data

• dbSNP Id: rs2013980161
• gnomAD v3: 16-20479783-G-T
• gnomAD v4: 16-20479783-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479783G>T , CM000678.2:g.20479783G>T	GRCh38
NC_000016.9:g.20491105G>T , CM000678.1:g.20491105G>T	GRCh37
NC_000016.8:g.20398606G>T	NCBI36
NG_054721.1:g.33323G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000573854.6:c.1282-790G>T MANE Select	ENSP00000459451.1:n.1282-790G>T
ENST00000219054.10:c.1282-790G>T	ENSP00000219054.6:n.1282-790G>T
ENST00000396104.2:c.1282-790G>T	ENSP00000379411.2:n.1282-790G>T
ENST00000417235.6:c.1045-790G>T	ENSP00000392169.2:n.1045-790G>T
ENST00000570698.5:n.1457-790G>T
ENST00000572843.5:n.1477-790G>T
ENST00000573854.5:c.1282-790G>T	ENSP00000459451.1:n.1282-790G>T
ENST00000575558.5:n.1211-790G>T
ENST00000575690.5:c.1282-790G>T	ENSP00000460349.1:n.1282-790G>T
ENST00000576101.1:n.1034-790G>T
NM_001010845.2:c.1282-790G>T	NP_001010845.1:n.1282-790G>T
NM_001308169.1:c.1045-790G>T	NP_001295098.1:n.1045-790G>T
NM_001308172.1:c.1282-790G>T	NP_001295101.1:n.1282-790G>T
NM_001308954.1:c.1282-790G>T	NP_001295883.1:n.1282-790G>T
XR_243259.2:n.2282-790G>T
XM_017022923.1:c.1282-790G>T	XP_016878412.1:n.1282-790G>T
XM_017022924.2:c.*709G>T	XP_016878413.1:n.*709G>T
XM_017022925.1:c.1045-790G>T	XP_016878414.1:n.1045-790G>T
XM_017022926.2:c.595-790G>T	XP_016878415.1:n.595-790G>T
XR_001751834.2:n.2491-790G>T
NM_001308172.2:c.1282-790G>T MANE Select	NP_001295101.1:n.1282-790G>T
NM_001308169.2:c.1045-790G>T	NP_001295098.1:n.1045-790G>T
NM_001308954.2:c.1282-790G>T	NP_001295883.1:n.1282-790G>T