Canonical Allele Identifier: CA2662320035

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189098837-TAAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189098843_189098845del , CM000664.2:g.189098843_189098845del	GRCh38
NC_000002.11:g.189963569_189963571del , CM000664.1:g.189963569_189963571del	GRCh37
NC_000002.10:g.189671814_189671816del	NCBI36
NG_011799.1:g.86040_86042del
NG_011799.2:g.86040_86042del
NG_011799.3:g.131462_131464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.370-81_370-79del MANE Select	ENSP00000364000.3:n.370-81_370-79del
ENST00000649966.1:c.232-81_232-79del	ENSP00000496785.1:n.232-81_232-79del
ENST00000374866.7:c.370-81_370-79del	ENSP00000364000.3:n.370-81_370-79del
ENST00000618828.1:c.-261-81_-261-79del	ENSP00000482184.1:n.-261-81_-261-79del
NM_000393.3:c.370-81_370-79del	NP_000384.2:n.370-81_370-79del
XM_011510573.1:c.232-81_232-79del	XP_011508875.1:n.232-81_232-79del
NM_000393.4:c.370-81_370-79del	NP_000384.2:n.370-81_370-79del
XM_011510573.3:c.232-81_232-79del	XP_011508875.1:n.232-81_232-79del
NM_000393.5:c.370-81_370-79del MANE Select	NP_000384.2:n.370-81_370-79del