Canonical Allele Identifier: CA349863932

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963470C>A (hg19) ; chr2:g.189098744C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098744C>A , CM000664.2:g.189098744C>A	GRCh38
NC_000002.11:g.189963470C>A , CM000664.1:g.189963470C>A	GRCh37
NC_000002.10:g.189671715C>A	NCBI36
NG_011799.1:g.86136G>T
NG_011799.2:g.86136G>T
NG_011799.3:g.131558G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.385G>T MANE Select	ENSP00000364000.3:p.Gly129Cys
ENST00000649966.1:c.247G>T	ENSP00000496785.1:p.Gly83Cys
ENST00000374866.7:c.385G>T	ENSP00000364000.3:p.Gly129Cys
ENST00000618828.1:c.-246G>T	ENSP00000482184.1:n.-246G>T
NM_000393.3:c.385G>T	NP_000384.2:p.Gly129Cys
XM_011510573.1:c.247G>T	XP_011508875.1:p.Gly83Cys
NM_000393.4:c.385G>T	NP_000384.2:p.Gly129Cys
XM_011510573.3:c.247G>T	XP_011508875.1:p.Gly83Cys
NM_000393.5:c.385G>T MANE Select	NP_000384.2:p.Gly129Cys