Canonical Allele Identifier: CA2662314167

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189058915-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058916_189058917del , CM000664.2:g.189058916_189058917del	GRCh38
NC_000002.11:g.189923642_189923643del , CM000664.1:g.189923642_189923643del	GRCh37
NC_000002.10:g.189631887_189631888del	NCBI36
NG_011799.1:g.125963_125964del
NG_011799.2:g.125963_125964del
NG_011799.3:g.171385_171386del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-24_2086-23del MANE Select	ENSP00000364000.3:n.2086-24_2086-23del
ENST00000374866.7:c.2086-24_2086-23del	ENSP00000364000.3:n.2086-24_2086-23del
ENST00000470524.2:n.192-24_192-23del
ENST00000618828.1:c.925-24_925-23del	ENSP00000482184.1:n.925-24_925-23del
NM_000393.3:c.2086-24_2086-23del	NP_000384.2:n.2086-24_2086-23del
XM_011510573.1:c.1948-24_1948-23del	XP_011508875.1:n.1948-24_1948-23del
NM_000393.4:c.2086-24_2086-23del	NP_000384.2:n.2086-24_2086-23del
XM_011510573.3:c.1948-24_1948-23del	XP_011508875.1:n.1948-24_1948-23del
NM_000393.5:c.2086-24_2086-23del MANE Select	NP_000384.2:n.2086-24_2086-23del