Canonical Allele Identifier: CA538451959

Gene: COL5A2

Linked Data

• gnomAD v2: 2-189915320-CCT-C
• COSMIC: COSM4611785
• MyVariant Identifiers: chr2:g.189915321_189915322del (hg19) ; chr2:g.189050595_189050596del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050602_189050603del , CM000664.2:g.189050602_189050603del	GRCh38
NC_000002.11:g.189915328_189915329del , CM000664.1:g.189915328_189915329del	GRCh37
NC_000002.10:g.189623573_189623574del	NCBI36
NG_011799.1:g.134284_134285del
NG_011799.2:g.134284_134285del
NG_011799.3:g.179706_179707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3012_3013del MANE Select	ENSP00000364000.3:p.Gly1005HisfsTer23
ENST00000374866.7:c.3012_3013del	ENSP00000364000.3:p.Gly1005HisfsTer23
ENST00000618828.1:c.1851_1852del	ENSP00000482184.1:p.Gly618HisfsTer23
NM_000393.3:c.3012_3013del	NP_000384.2:p.Gly1005HisfsTer23
XM_011510573.1:c.2874_2875del	XP_011508875.1:p.Gly959HisfsTer23
NM_000393.4:c.3012_3013del	NP_000384.2:p.Gly1005HisfsTer23
XM_011510573.3:c.2874_2875del	XP_011508875.1:p.Gly959HisfsTer23
NM_000393.5:c.3012_3013del MANE Select	NP_000384.2:p.Gly1005HisfsTer23