Canonical Allele Identifier: CA349862514

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910554G>A (hg19) ; chr2:g.189045828G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045828G>A , CM000664.2:g.189045828G>A	GRCh38
NC_000002.11:g.189910554G>A , CM000664.1:g.189910554G>A	GRCh37
NC_000002.10:g.189618799G>A	NCBI36
NG_011799.1:g.139052C>T
NG_011799.2:g.139052C>T
NG_011799.3:g.184474C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3281C>T MANE Select	ENSP00000364000.3:p.Pro1094Leu
ENST00000374866.7:c.3281C>T	ENSP00000364000.3:p.Pro1094Leu
ENST00000618828.1:c.2120C>T	ENSP00000482184.1:p.Pro707Leu
NM_000393.3:c.3281C>T	NP_000384.2:p.Pro1094Leu
XM_011510573.1:c.3143C>T	XP_011508875.1:p.Pro1048Leu
NM_000393.4:c.3281C>T	NP_000384.2:p.Pro1094Leu
XM_011510573.3:c.3143C>T	XP_011508875.1:p.Pro1048Leu
NM_000393.5:c.3281C>T MANE Select	NP_000384.2:p.Pro1094Leu