Canonical Allele Identifier: CA349862478

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189910536C>T (hg19) ; chr2:g.189045810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045810C>T , CM000664.2:g.189045810C>T	GRCh38
NC_000002.11:g.189910536C>T , CM000664.1:g.189910536C>T	GRCh37
NC_000002.10:g.189618781C>T	NCBI36
NG_011799.1:g.139070G>A
NG_011799.2:g.139070G>A
NG_011799.3:g.184492G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374866.9:c.3299G>A MANE Select	ENSP00000364000.3:p.Arg1100Lys
ENST00000374866.7:c.3299G>A	ENSP00000364000.3:p.Arg1100Lys
ENST00000618828.1:c.2138G>A	ENSP00000482184.1:p.Arg713Lys
NM_000393.3:c.3299G>A	NP_000384.2:p.Arg1100Lys
XM_011510573.1:c.3161G>A	XP_011508875.1:p.Arg1054Lys
NM_000393.4:c.3299G>A	NP_000384.2:p.Arg1100Lys
XM_011510573.3:c.3161G>A	XP_011508875.1:p.Arg1054Lys
NM_000393.5:c.3299G>A MANE Select	NP_000384.2:p.Arg1100Lys