Canonical Allele Identifier: CA538451855

Gene: COL5A2

Linked Data

• dbSNP Id: rs1370794754
• gnomAD v2: 2-189914965-AG-A
• gnomAD v3: 2-189050239-AG-A
• gnomAD v4: 2-189050239-AG-A
• MyVariant Identifiers: chr2:g.189914966del (hg19) ; chr2:g.189050240del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050240del , CM000664.2:g.189050240del	GRCh38
NC_000002.11:g.189914966del , CM000664.1:g.189914966del	GRCh37
NC_000002.10:g.189623211del	NCBI36
NG_011799.1:g.134640del
NG_011799.2:g.134640del
NG_011799.3:g.180062del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+329del MANE Select	ENSP00000364000.3:n.3039+329del
ENST00000374866.7:c.3039+329del	ENSP00000364000.3:n.3039+329del
ENST00000618828.1:c.1878+329del	ENSP00000482184.1:n.1878+329del
NM_000393.3:c.3039+329del	NP_000384.2:n.3039+329del
XM_011510573.1:c.2901+329del	XP_011508875.1:n.2901+329del
NM_000393.4:c.3039+329del	NP_000384.2:n.3039+329del
XM_011510573.3:c.2901+329del	XP_011508875.1:n.2901+329del
NM_000393.5:c.3039+329del MANE Select	NP_000384.2:n.3039+329del