Canonical Allele Identifier: CA349855323

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685418538
• MyVariant Identifiers: chr2:g.189899865T>C (hg19) ; chr2:g.189035139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189035139T>C , CM000664.2:g.189035139T>C	GRCh38
NC_000002.11:g.189899865T>C , CM000664.1:g.189899865T>C	GRCh37
NC_000002.10:g.189608110T>C	NCBI36
NG_011799.1:g.149741A>G
NG_011799.2:g.149741A>G
NG_011799.3:g.195163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.4130A>G MANE Select	ENSP00000364000.3:p.His1377Arg
ENST00000374866.7:c.4130A>G	ENSP00000364000.3:p.His1377Arg
ENST00000618828.1:c.2969A>G	ENSP00000482184.1:p.His990Arg
NM_000393.3:c.4130A>G	NP_000384.2:p.His1377Arg
XM_011510573.1:c.3992A>G	XP_011508875.1:p.His1331Arg
NM_000393.4:c.4130A>G	NP_000384.2:p.His1377Arg
XM_011510573.3:c.3992A>G	XP_011508875.1:p.His1331Arg
NM_000393.5:c.4130A>G MANE Select	NP_000384.2:p.His1377Arg