Canonical Allele Identifier: CA349854978

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899736T>A (hg19) ; chr2:g.189035010T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035010T>A , CM000664.2:g.189035010T>A	GRCh38
NC_000002.11:g.189899736T>A , CM000664.1:g.189899736T>A	GRCh37
NC_000002.10:g.189607981T>A	NCBI36
NG_011799.1:g.149870A>T
NG_011799.2:g.149870A>T
NG_011799.3:g.195292A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4259A>T MANE Select	ENSP00000364000.3:p.Lys1420Ile
ENST00000374866.7:c.4259A>T	ENSP00000364000.3:p.Lys1420Ile
ENST00000618828.1:c.3098A>T	ENSP00000482184.1:p.Lys1033Ile
NM_000393.3:c.4259A>T	NP_000384.2:p.Lys1420Ile
XM_011510573.1:c.4121A>T	XP_011508875.1:p.Lys1374Ile
NM_000393.4:c.4259A>T	NP_000384.2:p.Lys1420Ile
XM_011510573.3:c.4121A>T	XP_011508875.1:p.Lys1374Ile
NM_000393.5:c.4259A>T MANE Select	NP_000384.2:p.Lys1420Ile