Canonical Allele Identifier: CA2662317776

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050594-CCTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050600_189050603del , CM000664.2:g.189050600_189050603del	GRCh38
NC_000002.11:g.189915326_189915329del , CM000664.1:g.189915326_189915329del	GRCh37
NC_000002.10:g.189623571_189623574del	NCBI36
NG_011799.1:g.134282_134285del
NG_011799.2:g.134282_134285del
NG_011799.3:g.179704_179707del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3010_3013del MANE Select	ENSP00000364000.3:p.Arg1004AlafsTer15
ENST00000374866.7:c.3010_3013del	ENSP00000364000.3:p.Arg1004AlafsTer15
ENST00000618828.1:c.1849_1852del	ENSP00000482184.1:p.Arg617AlafsTer15
NM_000393.3:c.3010_3013del	NP_000384.2:p.Arg1004AlafsTer15
XM_011510573.1:c.2872_2875del	XP_011508875.1:p.Arg958AlafsTer15
NM_000393.4:c.3010_3013del	NP_000384.2:p.Arg1004AlafsTer15
XM_011510573.3:c.2872_2875del	XP_011508875.1:p.Arg958AlafsTer15
NM_000393.5:c.3010_3013del MANE Select	NP_000384.2:p.Arg1004AlafsTer15