Canonical Allele Identifier: CA765042

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098846C>T , CM000663.2:g.36098846C>T	GRCh38
NC_000001.10:g.36564447C>T , CM000663.1:g.36564447C>T	GRCh37
NC_000001.9:g.36337034C>T	NCBI36
NG_016245.2:g.31239G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.835G>A MANE Select	NP_005193.1:p.Gly279Ser
ENST00000397799.2:c.835G>A MANE Select	ENSP00000380901.1:p.Gly279Ser
NM_001294347.1:c.640G>A	NP_001281276.1:p.Gly214Ser
NM_001294347.2:c.640G>A	NP_001281276.1:p.Gly214Ser
NM_005202.3:c.835G>A	NP_005193.1:p.Gly279Ser
ENST00000303143.9:c.835G>A	ENSP00000305913.4:p.Gly279Ser
ENST00000397799.1:c.835G>A	ENSP00000380901.1:p.Gly279Ser
ENST00000481785.1:c.640G>A	ENSP00000436433.1:p.Gly214Ser
ENST00000615990.1:c.772+63G>A	ENSP00000484406.1:n.772+63G>A
XM_005270477.2:c.1066G>A	XP_005270534.1:p.Gly356Ser
XM_005270477.3:c.1066G>A	XP_005270534.1:p.Gly356Ser