Canonical Allele Identifier: CA762257061

Gene: COL5A2

Linked Data

• dbSNP Id: rs1315856516
• gnomAD v3: 2-189050884-T-A
• gnomAD v4: 2-189050884-T-A
• MyVariant Identifiers: chr2:g.189915610T>A (hg19) ; chr2:g.189050884T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050884T>A , CM000664.2:g.189050884T>A	GRCh38
NC_000002.11:g.189915610T>A , CM000664.1:g.189915610T>A	GRCh37
NC_000002.10:g.189623855T>A	NCBI36
NG_011799.1:g.133996A>T
NG_011799.2:g.133996A>T
NG_011799.3:g.179418A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-208A>T MANE Select	ENSP00000364000.3:n.2932-208A>T
ENST00000374866.7:c.2932-208A>T	ENSP00000364000.3:n.2932-208A>T
ENST00000618828.1:c.1771-208A>T	ENSP00000482184.1:n.1771-208A>T
NM_000393.3:c.2932-208A>T	NP_000384.2:n.2932-208A>T
XM_011510573.1:c.2794-208A>T	XP_011508875.1:n.2794-208A>T
NM_000393.4:c.2932-208A>T	NP_000384.2:n.2932-208A>T
XM_011510573.3:c.2794-208A>T	XP_011508875.1:n.2794-208A>T
NM_000393.5:c.2932-208A>T MANE Select	NP_000384.2:n.2932-208A>T