Canonical Allele Identifier: CA762254669

Gene: COL5A2

Linked Data

• dbSNP Id: rs1234553682
• gnomAD v3: 2-189046186-CA-C
• gnomAD v4: 2-189046186-CA-C
• MyVariant Identifiers: chr2:g.189910913del (hg19) ; chr2:g.189046187del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046187del , CM000664.2:g.189046187del	GRCh38
NC_000002.11:g.189910913del , CM000664.1:g.189910913del	GRCh37
NC_000002.10:g.189619158del	NCBI36
NG_011799.1:g.138693del
NG_011799.2:g.138693del
NG_011799.3:g.184115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-280del MANE Select	ENSP00000364000.3:n.3202-280del
ENST00000374866.7:c.3202-280del	ENSP00000364000.3:n.3202-280del
ENST00000618828.1:c.2041-280del	ENSP00000482184.1:n.2041-280del
NM_000393.3:c.3202-280del	NP_000384.2:n.3202-280del
XM_011510573.1:c.3064-280del	XP_011508875.1:n.3064-280del
NM_000393.4:c.3202-280del	NP_000384.2:n.3202-280del
XM_011510573.3:c.3064-280del	XP_011508875.1:n.3064-280del
NM_000393.5:c.3202-280del MANE Select	NP_000384.2:n.3202-280del