Canonical Allele Identifier: CA764989

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098544A>G , CM000663.2:g.36098544A>G	GRCh38
NC_000001.10:g.36564145A>G , CM000663.1:g.36564145A>G	GRCh37
NC_000001.9:g.36336732A>G	NCBI36
NG_016245.2:g.31541T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1137T>C MANE Select	NP_005193.1:p.Gly379=
ENST00000397799.2:c.1137T>C MANE Select	ENSP00000380901.1:p.Gly379=
NM_001294347.1:c.942T>C	NP_001281276.1:p.Gly314=
NM_001294347.2:c.942T>C	NP_001281276.1:p.Gly314=
NM_005202.3:c.1137T>C	NP_005193.1:p.Gly379=
ENST00000303143.9:c.1137T>C	ENSP00000305913.4:p.Gly379=
ENST00000397799.1:c.1137T>C	ENSP00000380901.1:p.Gly379=
ENST00000481785.1:c.942T>C	ENSP00000436433.1:p.Gly314=
ENST00000615990.1:c.772+365T>C	ENSP00000484406.1:n.772+365T>C
XM_005270477.2:c.1368T>C	XP_005270534.1:p.Gly456=
XM_005270477.3:c.1368T>C	XP_005270534.1:p.Gly456=