Canonical Allele Identifier: CA349862687

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910600G>T (hg19) ; chr2:g.189045874G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045874G>T , CM000664.2:g.189045874G>T	GRCh38
NC_000002.11:g.189910600G>T , CM000664.1:g.189910600G>T	GRCh37
NC_000002.10:g.189618845G>T	NCBI36
NG_011799.1:g.139006C>A
NG_011799.2:g.139006C>A
NG_011799.3:g.184428C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3235C>A MANE Select	ENSP00000364000.3:p.Pro1079Thr
ENST00000374866.7:c.3235C>A	ENSP00000364000.3:p.Pro1079Thr
ENST00000618828.1:c.2074C>A	ENSP00000482184.1:p.Pro692Thr
NM_000393.3:c.3235C>A	NP_000384.2:p.Pro1079Thr
XM_011510573.1:c.3097C>A	XP_011508875.1:p.Pro1033Thr
NM_000393.4:c.3235C>A	NP_000384.2:p.Pro1079Thr
XM_011510573.3:c.3097C>A	XP_011508875.1:p.Pro1033Thr
NM_000393.5:c.3235C>A MANE Select	NP_000384.2:p.Pro1079Thr