Canonical Allele Identifier: CA647756699

Gene: COL5A2

Linked Data

• COSMIC: COSN20080692

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062835_189062836insCA , CM000664.2:g.189062835_189062836insCA	GRCh38
NC_000002.11:g.189927561_189927562insCA , CM000664.1:g.189927561_189927562insCA	GRCh37
NC_000002.10:g.189635806_189635807insCA	NCBI36
NG_011799.1:g.122044_122045insTG
NG_011799.2:g.122044_122045insTG
NG_011799.3:g.167466_167467insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+29_1977+30insTG MANE Select	ENSP00000364000.3:n.1977+29_1977+30insTG
ENST00000374866.7:c.1977+29_1977+30insTG	ENSP00000364000.3:n.1977+29_1977+30insTG
ENST00000470524.2:n.83+29_83+30insTG
ENST00000618828.1:c.816+29_816+30insTG	ENSP00000482184.1:n.816+29_816+30insTG
NM_000393.3:c.1977+29_1977+30insTG	NP_000384.2:n.1977+29_1977+30insTG
XM_011510573.1:c.1839+29_1839+30insTG	XP_011508875.1:n.1839+29_1839+30insTG
NM_000393.4:c.1977+29_1977+30insTG	NP_000384.2:n.1977+29_1977+30insTG
XM_011510573.3:c.1839+29_1839+30insTG	XP_011508875.1:n.1839+29_1839+30insTG
NM_000393.5:c.1977+29_1977+30insTG MANE Select	NP_000384.2:n.1977+29_1977+30insTG