Canonical Allele Identifier: CA764973

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098405T>G , CM000663.2:g.36098405T>G	GRCh38
NC_000001.10:g.36564006T>G , CM000663.1:g.36564006T>G	GRCh37
NC_000001.9:g.36336593T>G	NCBI36
NG_016245.2:g.31680A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1276A>C MANE Select	NP_005193.1:p.Lys426Gln
ENST00000397799.2:c.1276A>C MANE Select	ENSP00000380901.1:p.Lys426Gln
NM_001294347.1:c.1081A>C	NP_001281276.1:p.Lys361Gln
NM_001294347.2:c.1081A>C	NP_001281276.1:p.Lys361Gln
NM_005202.3:c.1276A>C	NP_005193.1:p.Lys426Gln
ENST00000303143.9:c.1276A>C	ENSP00000305913.4:p.Lys426Gln
ENST00000397799.1:c.1276A>C	ENSP00000380901.1:p.Lys426Gln
ENST00000481785.1:c.1081A>C	ENSP00000436433.1:p.Lys361Gln
ENST00000615990.1:c.773-325A>C	ENSP00000484406.1:n.773-325A>C
XM_005270477.2:c.1507A>C	XP_005270534.1:p.Lys503Gln
XM_005270477.3:c.1507A>C	XP_005270534.1:p.Lys503Gln