Canonical Allele Identifier: CA764962

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098353G>A , CM000663.2:g.36098353G>A	GRCh38
NC_000001.10:g.36563954G>A , CM000663.1:g.36563954G>A	GRCh37
NC_000001.9:g.36336541G>A	NCBI36
NG_016245.2:g.31732C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1328C>T MANE Select	NP_005193.1:p.Ala443Val
ENST00000397799.2:c.1328C>T MANE Select	ENSP00000380901.1:p.Ala443Val
NM_001294347.1:c.1133C>T	NP_001281276.1:p.Ala378Val
NM_001294347.2:c.1133C>T	NP_001281276.1:p.Ala378Val
NM_005202.3:c.1328C>T	NP_005193.1:p.Ala443Val
ENST00000303143.9:c.1328C>T	ENSP00000305913.4:p.Ala443Val
ENST00000397799.1:c.1328C>T	ENSP00000380901.1:p.Ala443Val
ENST00000481785.1:c.1133C>T	ENSP00000436433.1:p.Ala378Val
ENST00000615990.1:c.773-273C>T	ENSP00000484406.1:n.773-273C>T
XM_005270477.2:c.1559C>T	XP_005270534.1:p.Ala520Val
XM_005270477.3:c.1559C>T	XP_005270534.1:p.Ala520Val