Canonical Allele Identifier: CA62594839

Gene: COL5A2

Linked Data

• dbSNP Id: rs762419932
• MyVariant Identifiers: chr2:g.189915010_189915016del (hg19) ; chr2:g.189050284_189050290del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050284_189050290del , CM000664.2:g.189050284_189050290del	GRCh38
NC_000002.11:g.189915010_189915016del , CM000664.1:g.189915010_189915016del	GRCh37
NC_000002.10:g.189623255_189623261del	NCBI36
NG_011799.1:g.134590_134596del
NG_011799.2:g.134590_134596del
NG_011799.3:g.180012_180018del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3039+279_3039+285del MANE Select	ENSP00000364000.3:n.3039+279_3039+285del
ENST00000374866.7:c.3039+279_3039+285del	ENSP00000364000.3:n.3039+279_3039+285del
ENST00000618828.1:c.1878+279_1878+285del	ENSP00000482184.1:n.1878+279_1878+285del
NM_000393.3:c.3039+279_3039+285del	NP_000384.2:n.3039+279_3039+285del
XM_011510573.1:c.2901+279_2901+285del	XP_011508875.1:n.2901+279_2901+285del
NM_000393.4:c.3039+279_3039+285del	NP_000384.2:n.3039+279_3039+285del
XM_011510573.3:c.2901+279_2901+285del	XP_011508875.1:n.2901+279_2901+285del
NM_000393.5:c.3039+279_3039+285del MANE Select	NP_000384.2:n.3039+279_3039+285del