Canonical Allele Identifier: CA62595066

Gene: COL5A2

Linked Data

• dbSNP Id: rs1007365259
• MyVariant Identifiers: chr2:g.189915354T>G (hg19) ; chr2:g.189050628T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050628T>G , CM000664.2:g.189050628T>G	GRCh38
NC_000002.11:g.189915354T>G , CM000664.1:g.189915354T>G	GRCh37
NC_000002.10:g.189623599T>G	NCBI36
NG_011799.1:g.134252A>C
NG_011799.2:g.134252A>C
NG_011799.3:g.179674A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2980A>C MANE Select	ENSP00000364000.3:p.Ile994Leu
ENST00000374866.7:c.2980A>C	ENSP00000364000.3:p.Ile994Leu
ENST00000618828.1:c.1819A>C	ENSP00000482184.1:p.Ile607Leu
NM_000393.3:c.2980A>C	NP_000384.2:p.Ile994Leu
XM_011510573.1:c.2842A>C	XP_011508875.1:p.Ile948Leu
NM_000393.4:c.2980A>C	NP_000384.2:p.Ile994Leu
XM_011510573.3:c.2842A>C	XP_011508875.1:p.Ile948Leu
NM_000393.5:c.2980A>C MANE Select	NP_000384.2:p.Ile994Leu