Canonical Allele Identifier: CA349862600

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910584G>C (hg19) ; chr2:g.189045858G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045858G>C , CM000664.2:g.189045858G>C	GRCh38
NC_000002.11:g.189910584G>C , CM000664.1:g.189910584G>C	GRCh37
NC_000002.10:g.189618829G>C	NCBI36
NG_011799.1:g.139022C>G
NG_011799.2:g.139022C>G
NG_011799.3:g.184444C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3251C>G MANE Select	ENSP00000364000.3:p.Ala1084Gly
ENST00000374866.7:c.3251C>G	ENSP00000364000.3:p.Ala1084Gly
ENST00000618828.1:c.2090C>G	ENSP00000482184.1:p.Ala697Gly
NM_000393.3:c.3251C>G	NP_000384.2:p.Ala1084Gly
XM_011510573.1:c.3113C>G	XP_011508875.1:p.Ala1038Gly
NM_000393.4:c.3251C>G	NP_000384.2:p.Ala1084Gly
XM_011510573.3:c.3113C>G	XP_011508875.1:p.Ala1038Gly
NM_000393.5:c.3251C>G MANE Select	NP_000384.2:p.Ala1084Gly