Canonical Allele Identifier: CA349879115

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189927630T>A (hg19) ; chr2:g.189062904T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062904T>A , CM000664.2:g.189062904T>A	GRCh38
NC_000002.11:g.189927630T>A , CM000664.1:g.189927630T>A	GRCh37
NC_000002.10:g.189635875T>A	NCBI36
NG_011799.1:g.121976A>T
NG_011799.2:g.121976A>T
NG_011799.3:g.167398A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1938A>T MANE Select	ENSP00000364000.3:p.Lys646Asn
ENST00000374866.7:c.1938A>T	ENSP00000364000.3:p.Lys646Asn
ENST00000470524.2:n.44A>T
ENST00000618828.1:c.777A>T	ENSP00000482184.1:p.Lys259Asn
NM_000393.3:c.1938A>T	NP_000384.2:p.Lys646Asn
XM_011510573.1:c.1800A>T	XP_011508875.1:p.Lys600Asn
NM_000393.4:c.1938A>T	NP_000384.2:p.Lys646Asn
XM_011510573.3:c.1800A>T	XP_011508875.1:p.Lys600Asn
NM_000393.5:c.1938A>T MANE Select	NP_000384.2:p.Lys646Asn