Canonical Allele Identifier: CA2662314722

Gene: COL5A2

Linked Data

• gnomAD v4: 2-189062938-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062938_189062939insA , CM000664.2:g.189062938_189062939insA	GRCh38
NC_000002.11:g.189927664_189927665insA , CM000664.1:g.189927664_189927665insA	GRCh37
NC_000002.10:g.189635909_189635910insA	NCBI36
NG_011799.1:g.121941_121942insT
NG_011799.2:g.121941_121942insT
NG_011799.3:g.167363_167364insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1924-21_1924-20insT MANE Select	ENSP00000364000.3:n.1924-21_1924-20insT
ENST00000374866.7:c.1924-21_1924-20insT	ENSP00000364000.3:n.1924-21_1924-20insT
ENST00000470524.2:n.30-21_30-20insT
ENST00000618828.1:c.763-21_763-20insT	ENSP00000482184.1:n.763-21_763-20insT
NM_000393.3:c.1924-21_1924-20insT	NP_000384.2:n.1924-21_1924-20insT
XM_011510573.1:c.1786-21_1786-20insT	XP_011508875.1:n.1786-21_1786-20insT
NM_000393.4:c.1924-21_1924-20insT	NP_000384.2:n.1924-21_1924-20insT
XM_011510573.3:c.1786-21_1786-20insT	XP_011508875.1:n.1786-21_1786-20insT
NM_000393.5:c.1924-21_1924-20insT MANE Select	NP_000384.2:n.1924-21_1924-20insT