Canonical Allele Identifier: CA2662317851

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189050787-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189050791_189050792del , CM000664.2:g.189050791_189050792del	GRCh38
NC_000002.11:g.189915517_189915518del , CM000664.1:g.189915517_189915518del	GRCh37
NC_000002.10:g.189623762_189623763del	NCBI36
NG_011799.1:g.134091_134092del
NG_011799.2:g.134091_134092del
NG_011799.3:g.179513_179514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2932-113_2932-112del MANE Select	ENSP00000364000.3:n.2932-113_2932-112del
ENST00000374866.7:c.2932-113_2932-112del	ENSP00000364000.3:n.2932-113_2932-112del
ENST00000618828.1:c.1771-113_1771-112del	ENSP00000482184.1:n.1771-113_1771-112del
NM_000393.3:c.2932-113_2932-112del	NP_000384.2:n.2932-113_2932-112del
XM_011510573.1:c.2794-113_2794-112del	XP_011508875.1:n.2794-113_2794-112del
NM_000393.4:c.2932-113_2932-112del	NP_000384.2:n.2932-113_2932-112del
XM_011510573.3:c.2794-113_2794-112del	XP_011508875.1:n.2794-113_2794-112del
NM_000393.5:c.2932-113_2932-112del MANE Select	NP_000384.2:n.2932-113_2932-112del