Canonical Allele Identifier: CA2662314715

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189062836-TCACACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062847_189062852del , CM000664.2:g.189062847_189062852del	GRCh38
NC_000002.11:g.189927573_189927578del , CM000664.1:g.189927573_189927578del	GRCh37
NC_000002.10:g.189635818_189635823del	NCBI36
NG_011799.1:g.122038_122043del
NG_011799.2:g.122038_122043del
NG_011799.3:g.167460_167465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+23_1977+28del MANE Select	ENSP00000364000.3:n.1977+23_1977+28del
ENST00000374866.7:c.1977+23_1977+28del	ENSP00000364000.3:n.1977+23_1977+28del
ENST00000470524.2:n.83+23_83+28del
ENST00000618828.1:c.816+23_816+28del	ENSP00000482184.1:n.816+23_816+28del
NM_000393.3:c.1977+23_1977+28del	NP_000384.2:n.1977+23_1977+28del
XM_011510573.1:c.1839+23_1839+28del	XP_011508875.1:n.1839+23_1839+28del
NM_000393.4:c.1977+23_1977+28del	NP_000384.2:n.1977+23_1977+28del
XM_011510573.3:c.1839+23_1839+28del	XP_011508875.1:n.1839+23_1839+28del
NM_000393.5:c.1977+23_1977+28del MANE Select	NP_000384.2:n.1977+23_1977+28del