Canonical Allele Identifier: CA349855329

Gene: COL5A2

Linked Data

• MyVariant Identifiers: chr2:g.189899866G>C (hg19) ; chr2:g.189035140G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035140G>C , CM000664.2:g.189035140G>C	GRCh38
NC_000002.11:g.189899866G>C , CM000664.1:g.189899866G>C	GRCh37
NC_000002.10:g.189608111G>C	NCBI36
NG_011799.1:g.149740C>G
NG_011799.2:g.149740C>G
NG_011799.3:g.195162C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4129C>G MANE Select	ENSP00000364000.3:p.His1377Asp
ENST00000374866.7:c.4129C>G	ENSP00000364000.3:p.His1377Asp
ENST00000618828.1:c.2968C>G	ENSP00000482184.1:p.His990Asp
NM_000393.3:c.4129C>G	NP_000384.2:p.His1377Asp
XM_011510573.1:c.3991C>G	XP_011508875.1:p.His1331Asp
NM_000393.4:c.4129C>G	NP_000384.2:p.His1377Asp
XM_011510573.3:c.3991C>G	XP_011508875.1:p.His1331Asp
NM_000393.5:c.4129C>G MANE Select	NP_000384.2:p.His1377Asp