Canonical Allele Identifier: CA764868

Gene: COL8A2

Linked Data

• ClinVar Variation Id: 2888150
• ClinVar RCV Id: RCV003724724 ; RCV004374015
• dbSNP Id: rs780560468
• ExAC: 1:36563480 C / G
• gnomAD v2: 1-36563480-C-G
• gnomAD v3: 1-36097879-C-G
• gnomAD v4: 1-36097879-C-G
• MyVariant Identifiers: chr1:g.36563480C>G (hg19) ; chr1:g.36097879C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.36097879C>G , CM000663.2:g.36097879C>G	GRCh38
NC_000001.10:g.36563480C>G , CM000663.1:g.36563480C>G	GRCh37
NC_000001.9:g.36336067C>G	NCBI36
NG_016245.2:g.32206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397799.2:c.1802G>C MANE Select	ENSP00000380901.1:p.Gly601Ala
ENST00000303143.9:c.1802G>C	ENSP00000305913.4:p.Gly601Ala
ENST00000397799.1:c.1802G>C	ENSP00000380901.1:p.Gly601Ala
ENST00000481785.1:c.1607G>C	ENSP00000436433.1:p.Gly536Ala
ENST00000615990.1:c.974G>C	ENSP00000484406.1:p.Gly325Ala
NM_001294347.1:c.1607G>C	NP_001281276.1:p.Gly536Ala
NM_005202.3:c.1802G>C	NP_005193.1:p.Gly601Ala
XM_005270477.2:c.2033G>C	XP_005270534.1:p.Gly678Ala
XM_005270477.3:c.2033G>C	XP_005270534.1:p.Gly678Ala
NM_005202.4:c.1802G>C MANE Select	NP_005193.1:p.Gly601Ala
NM_001294347.2:c.1607G>C	NP_001281276.1:p.Gly536Ala