Canonical Allele Identifier: CA1040408298

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685759750
• gnomAD v3: 2-189050440-GA-G
• gnomAD v4: 2-189050440-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050441del , CM000664.2:g.189050441del	GRCh38
NC_000002.11:g.189915167del , CM000664.1:g.189915167del	GRCh37
NC_000002.10:g.189623412del	NCBI36
NG_011799.1:g.134439del
NG_011799.2:g.134439del
NG_011799.3:g.179861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+128del MANE Select	ENSP00000364000.3:n.3039+128del
ENST00000374866.7:c.3039+128del	ENSP00000364000.3:n.3039+128del
ENST00000618828.1:c.1878+128del	ENSP00000482184.1:n.1878+128del
NM_000393.3:c.3039+128del	NP_000384.2:n.3039+128del
XM_011510573.1:c.2901+128del	XP_011508875.1:n.2901+128del
NM_000393.4:c.3039+128del	NP_000384.2:n.3039+128del
XM_011510573.3:c.2901+128del	XP_011508875.1:n.2901+128del
NM_000393.5:c.3039+128del MANE Select	NP_000384.2:n.3039+128del