Canonical Allele Identifier: CA2662317756

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050529-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050530del , CM000664.2:g.189050530del	GRCh38
NC_000002.11:g.189915256del , CM000664.1:g.189915256del	GRCh37
NC_000002.10:g.189623501del	NCBI36
NG_011799.1:g.134350del
NG_011799.2:g.134350del
NG_011799.3:g.179772del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+39del MANE Select	ENSP00000364000.3:n.3039+39del
ENST00000374866.7:c.3039+39del	ENSP00000364000.3:n.3039+39del
ENST00000618828.1:c.1878+39del	ENSP00000482184.1:n.1878+39del
NM_000393.3:c.3039+39del	NP_000384.2:n.3039+39del
XM_011510573.1:c.2901+39del	XP_011508875.1:n.2901+39del
NM_000393.4:c.3039+39del	NP_000384.2:n.3039+39del
XM_011510573.3:c.2901+39del	XP_011508875.1:n.2901+39del
NM_000393.5:c.3039+39del MANE Select	NP_000384.2:n.3039+39del