Canonical Allele Identifier: CA2753581814

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189062798C>A , CM000664.2:g.189062798C>A	GRCh38
NC_000002.11:g.189927524C>A , CM000664.1:g.189927524C>A	GRCh37
NC_000002.10:g.189635769C>A	NCBI36
NG_011799.1:g.122082G>T
NG_011799.2:g.122082G>T
NG_011799.3:g.167504G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.1977+67G>T MANE Select	ENSP00000364000.3:n.1977+67G>T
ENST00000374866.7:c.1977+67G>T	ENSP00000364000.3:n.1977+67G>T
ENST00000470524.2:n.83+67G>T
ENST00000618828.1:c.816+67G>T	ENSP00000482184.1:n.816+67G>T
NM_000393.3:c.1977+67G>T	NP_000384.2:n.1977+67G>T
XM_011510573.1:c.1839+67G>T	XP_011508875.1:n.1839+67G>T
NM_000393.4:c.1977+67G>T	NP_000384.2:n.1977+67G>T
XM_011510573.3:c.1839+67G>T	XP_011508875.1:n.1839+67G>T
NM_000393.5:c.1977+67G>T MANE Select	NP_000384.2:n.1977+67G>T