Canonical Allele Identifier: CA127107

Gene: COL8A2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36098332A>C , CM000663.2:g.36098332A>C	GRCh38
NC_000001.10:g.36563933A>C , CM000663.1:g.36563933A>C	GRCh37
NC_000001.9:g.36336520A>C	NCBI36
NG_016245.2:g.31753T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005202.4:c.1349T>G MANE Select	NP_005193.1:p.Leu450Trp
ENST00000397799.2:c.1349T>G MANE Select	ENSP00000380901.1:p.Leu450Trp
NM_001294347.1:c.1154T>G	NP_001281276.1:p.Leu385Trp
NM_001294347.2:c.1154T>G	NP_001281276.1:p.Leu385Trp
NM_005202.3:c.1349T>G	NP_005193.1:p.Leu450Trp
ENST00000303143.9:c.1349T>G	ENSP00000305913.4:p.Leu450Trp
ENST00000397799.1:c.1349T>G	ENSP00000380901.1:p.Leu450Trp
ENST00000481785.1:c.1154T>G	ENSP00000436433.1:p.Leu385Trp
ENST00000615990.1:c.773-252T>G	ENSP00000484406.1:n.773-252T>G
XM_005270477.2:c.1580T>G	XP_005270534.1:p.Leu527Trp
XM_005270477.3:c.1580T>G	XP_005270534.1:p.Leu527Trp