Canonical Allele Identifier: CA2577186431

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050729del , CM000664.2:g.189050729del	GRCh38
NC_000002.11:g.189915455del , CM000664.1:g.189915455del	GRCh37
NC_000002.10:g.189623700del	NCBI36
NG_011799.1:g.134153del
NG_011799.2:g.134153del
NG_011799.3:g.179575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-51del MANE Select	ENSP00000364000.3:n.2932-51del
ENST00000374866.7:c.2932-51del	ENSP00000364000.3:n.2932-51del
ENST00000618828.1:c.1771-51del	ENSP00000482184.1:n.1771-51del
NM_000393.3:c.2932-51del	NP_000384.2:n.2932-51del
XM_011510573.1:c.2794-51del	XP_011508875.1:n.2794-51del
NM_000393.4:c.2932-51del	NP_000384.2:n.2932-51del
XM_011510573.3:c.2794-51del	XP_011508875.1:n.2794-51del
NM_000393.5:c.2932-51del MANE Select	NP_000384.2:n.2932-51del