Canonical Allele Identifier: CA1315418985

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685659875
• gnomAD v4: 2-189046020-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189046021_189046022del , CM000664.2:g.189046021_189046022del	GRCh38
NC_000002.11:g.189910747_189910748del , CM000664.1:g.189910747_189910748del	GRCh37
NC_000002.10:g.189618992_189618993del	NCBI36
NG_011799.1:g.138858_138859del
NG_011799.2:g.138858_138859del
NG_011799.3:g.184280_184281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3202-115_3202-114del MANE Select	ENSP00000364000.3:n.3202-115_3202-114del
ENST00000374866.7:c.3202-115_3202-114del	ENSP00000364000.3:n.3202-115_3202-114del
ENST00000618828.1:c.2041-115_2041-114del	ENSP00000482184.1:n.2041-115_2041-114del
NM_000393.3:c.3202-115_3202-114del	NP_000384.2:n.3202-115_3202-114del
XM_011510573.1:c.3064-115_3064-114del	XP_011508875.1:n.3064-115_3064-114del
NM_000393.4:c.3202-115_3202-114del	NP_000384.2:n.3202-115_3202-114del
XM_011510573.3:c.3064-115_3064-114del	XP_011508875.1:n.3064-115_3064-114del
NM_000393.5:c.3202-115_3202-114del MANE Select	NP_000384.2:n.3202-115_3202-114del