Canonical Allele Identifier: CA349867215

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685767053
• MyVariant Identifiers: chr2:g.189915396C>G (hg19) ; chr2:g.189050670C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050670C>G , CM000664.2:g.189050670C>G	GRCh38
NC_000002.11:g.189915396C>G , CM000664.1:g.189915396C>G	GRCh37
NC_000002.10:g.189623641C>G	NCBI36
NG_011799.1:g.134210G>C
NG_011799.2:g.134210G>C
NG_011799.3:g.179632G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2938G>C MANE Select	ENSP00000364000.3:p.Asp980His
ENST00000374866.7:c.2938G>C	ENSP00000364000.3:p.Asp980His
ENST00000618828.1:c.1777G>C	ENSP00000482184.1:p.Asp593His
NM_000393.3:c.2938G>C	NP_000384.2:p.Asp980His
XM_011510573.1:c.2800G>C	XP_011508875.1:p.Asp934His
NM_000393.4:c.2938G>C	NP_000384.2:p.Asp980His
XM_011510573.3:c.2800G>C	XP_011508875.1:p.Asp934His
NM_000393.5:c.2938G>C MANE Select	NP_000384.2:p.Asp980His