Canonical Allele Identifier: CA430307737

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189963480T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098754T>A , CM000664.2:g.189098754T>A	GRCh38
NC_000002.11:g.189963480T>A , CM000664.1:g.189963480T>A	GRCh37
NC_000002.10:g.189671725T>A	NCBI36
NG_011799.1:g.86126A>T
NG_011799.2:g.86126A>T
NG_011799.3:g.131548A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.375A>T MANE Select	ENSP00000364000.3:p.Thr125=
ENST00000649966.1:c.237A>T	ENSP00000496785.1:p.Thr79=
ENST00000374866.7:c.375A>T	ENSP00000364000.3:p.Thr125=
ENST00000618828.1:c.-256A>T	ENSP00000482184.1:n.-256A>T
NM_000393.3:c.375A>T	NP_000384.2:p.Thr125=
XM_011510573.1:c.237A>T	XP_011508875.1:p.Thr79=
NM_000393.4:c.375A>T	NP_000384.2:p.Thr125=
XM_011510573.3:c.237A>T	XP_011508875.1:p.Thr79=
NM_000393.5:c.375A>T MANE Select	NP_000384.2:p.Thr125=