Canonical Allele Identifier: CA2662317854

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050791-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050792dup , CM000664.2:g.189050792dup	GRCh38
NC_000002.11:g.189915518dup , CM000664.1:g.189915518dup	GRCh37
NC_000002.10:g.189623763dup	NCBI36
NG_011799.1:g.134088dup
NG_011799.2:g.134088dup
NG_011799.3:g.179510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-116dup MANE Select	ENSP00000364000.3:n.2932-116dup
ENST00000374866.7:c.2932-116dup	ENSP00000364000.3:n.2932-116dup
ENST00000618828.1:c.1771-116dup	ENSP00000482184.1:n.1771-116dup
NM_000393.3:c.2932-116dup	NP_000384.2:n.2932-116dup
XM_011510573.1:c.2794-116dup	XP_011508875.1:n.2794-116dup
NM_000393.4:c.2932-116dup	NP_000384.2:n.2932-116dup
XM_011510573.3:c.2794-116dup	XP_011508875.1:n.2794-116dup
NM_000393.5:c.2932-116dup MANE Select	NP_000384.2:n.2932-116dup