Canonical Allele Identifier: CA2212010255

Gene: ACSM2A

Linked Data

• dbSNP Id: rs2013962228

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479463_20479483del , CM000678.2:g.20479463_20479483del	GRCh38
NC_000016.9:g.20490785_20490805del , CM000678.1:g.20490785_20490805del	GRCh37
NC_000016.8:g.20398286_20398306del	NCBI36
NG_054721.1:g.33003_33023del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+786_1281+806del MANE Select	ENSP00000459451.1:n.1281+786_1281+806del
ENST00000219054.10:c.1281+786_1281+806del	ENSP00000219054.6:n.1281+786_1281+806del
ENST00000396104.2:c.1281+786_1281+806del	ENSP00000379411.2:n.1281+786_1281+806del
ENST00000417235.6:c.1044+786_1044+806del	ENSP00000392169.2:n.1044+786_1044+806del
ENST00000570698.5:n.1456+786_1456+806del
ENST00000572843.5:n.1476+786_1476+806del
ENST00000573854.5:c.1281+786_1281+806del	ENSP00000459451.1:n.1281+786_1281+806del
ENST00000575558.5:n.1210+786_1210+806del
ENST00000575690.5:c.1281+786_1281+806del	ENSP00000460349.1:n.1281+786_1281+806del
ENST00000576101.1:n.1033+786_1033+806del
NM_001010845.2:c.1281+786_1281+806del	NP_001010845.1:n.1281+786_1281+806del
NM_001308169.1:c.1044+786_1044+806del	NP_001295098.1:n.1044+786_1044+806del
NM_001308172.1:c.1281+786_1281+806del	NP_001295101.1:n.1281+786_1281+806del
NM_001308954.1:c.1281+786_1281+806del	NP_001295883.1:n.1281+786_1281+806del
XR_243259.2:n.2281+786_2281+806del
XM_017022923.1:c.1281+786_1281+806del	XP_016878412.1:n.1281+786_1281+806del
XM_017022924.2:c.*389_*409del	XP_016878413.1:n.*389_*409del
XM_017022925.1:c.1044+786_1044+806del	XP_016878414.1:n.1044+786_1044+806del
XM_017022926.2:c.594+786_594+806del	XP_016878415.1:n.594+786_594+806del
XR_001751834.2:n.2490+786_2490+806del
NM_001308172.2:c.1281+786_1281+806del MANE Select	NP_001295101.1:n.1281+786_1281+806del
NM_001308169.2:c.1044+786_1044+806del	NP_001295098.1:n.1044+786_1044+806del
NM_001308954.2:c.1281+786_1281+806del	NP_001295883.1:n.1281+786_1281+806del