Canonical Allele Identifier: CA1315419031

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685661082

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046074_189046078del , CM000664.2:g.189046074_189046078del	GRCh38
NC_000002.11:g.189910800_189910804del , CM000664.1:g.189910800_189910804del	GRCh37
NC_000002.10:g.189619045_189619049del	NCBI36
NG_011799.1:g.138806_138810del
NG_011799.2:g.138806_138810del
NG_011799.3:g.184228_184232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-167_3202-163del MANE Select	ENSP00000364000.3:n.3202-167_3202-163del
ENST00000374866.7:c.3202-167_3202-163del	ENSP00000364000.3:n.3202-167_3202-163del
ENST00000618828.1:c.2041-167_2041-163del	ENSP00000482184.1:n.2041-167_2041-163del
NM_000393.3:c.3202-167_3202-163del	NP_000384.2:n.3202-167_3202-163del
XM_011510573.1:c.3064-167_3064-163del	XP_011508875.1:n.3064-167_3064-163del
NM_000393.4:c.3202-167_3202-163del	NP_000384.2:n.3202-167_3202-163del
XM_011510573.3:c.3064-167_3064-163del	XP_011508875.1:n.3064-167_3064-163del
NM_000393.5:c.3202-167_3202-163del MANE Select	NP_000384.2:n.3202-167_3202-163del