Canonical Allele Identifier: CA2023030

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189092293C>A , CM000664.2:g.189092293C>A	GRCh38
NC_000002.11:g.189957019C>A , CM000664.1:g.189957019C>A	GRCh37
NC_000002.10:g.189665264C>A	NCBI36
NG_011799.1:g.92587G>T
NG_011799.2:g.92587G>T
NG_011799.3:g.138009G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000393.5:c.567+17G>T MANE Select	NP_000384.2:n.567+17G>T
ENST00000374866.9:c.567+17G>T MANE Select	ENSP00000364000.3:n.567+17G>T
NM_000393.3:c.567+17G>T	NP_000384.2:n.567+17G>T
NM_000393.4:c.567+17G>T	NP_000384.2:n.567+17G>T
ENST00000374866.7:c.567+17G>T	ENSP00000364000.3:n.567+17G>T
ENST00000618828.1:c.-64+17G>T	ENSP00000482184.1:n.-64+17G>T
ENST00000649966.1:c.429+17G>T	ENSP00000496785.1:n.429+17G>T
XM_011510573.1:c.429+17G>T	XP_011508875.1:n.429+17G>T
XM_011510573.3:c.429+17G>T	XP_011508875.1:n.429+17G>T