Canonical Allele Identifier: CA764988

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098541C>G , CM000663.2:g.36098541C>G	GRCh38
NC_000001.10:g.36564142C>G , CM000663.1:g.36564142C>G	GRCh37
NC_000001.9:g.36336729C>G	NCBI36
NG_016245.2:g.31544G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1140G>C MANE Select	NP_005193.1:p.Glu380Asp
ENST00000397799.2:c.1140G>C MANE Select	ENSP00000380901.1:p.Glu380Asp
NM_001294347.1:c.945G>C	NP_001281276.1:p.Glu315Asp
NM_001294347.2:c.945G>C	NP_001281276.1:p.Glu315Asp
NM_005202.3:c.1140G>C	NP_005193.1:p.Glu380Asp
ENST00000303143.9:c.1140G>C	ENSP00000305913.4:p.Glu380Asp
ENST00000397799.1:c.1140G>C	ENSP00000380901.1:p.Glu380Asp
ENST00000481785.1:c.945G>C	ENSP00000436433.1:p.Glu315Asp
ENST00000615990.1:c.772+368G>C	ENSP00000484406.1:n.772+368G>C
XM_005270477.2:c.1371G>C	XP_005270534.1:p.Glu457Asp
XM_005270477.3:c.1371G>C	XP_005270534.1:p.Glu457Asp