Canonical Allele Identifier: CA1040408639

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685771908
• gnomAD v3: 2-189050855-ATTAT-A
• gnomAD v4: 2-189050855-ATTAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050859_189050862del , CM000664.2:g.189050859_189050862del	GRCh38
NC_000002.11:g.189915585_189915588del , CM000664.1:g.189915585_189915588del	GRCh37
NC_000002.10:g.189623830_189623833del	NCBI36
NG_011799.1:g.134021_134024del
NG_011799.2:g.134021_134024del
NG_011799.3:g.179443_179446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-183_2932-180del MANE Select	ENSP00000364000.3:n.2932-183_2932-180del
ENST00000374866.7:c.2932-183_2932-180del	ENSP00000364000.3:n.2932-183_2932-180del
ENST00000618828.1:c.1771-183_1771-180del	ENSP00000482184.1:n.1771-183_1771-180del
NM_000393.3:c.2932-183_2932-180del	NP_000384.2:n.2932-183_2932-180del
XM_011510573.1:c.2794-183_2794-180del	XP_011508875.1:n.2794-183_2794-180del
NM_000393.4:c.2932-183_2932-180del	NP_000384.2:n.2932-183_2932-180del
XM_011510573.3:c.2794-183_2794-180del	XP_011508875.1:n.2794-183_2794-180del
NM_000393.5:c.2932-183_2932-180del MANE Select	NP_000384.2:n.2932-183_2932-180del