Canonical Allele Identifier: CA2569704222

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189059275G>A , CM000664.2:g.189059275G>A	GRCh38
NC_000002.11:g.189924001G>A , CM000664.1:g.189924001G>A	GRCh37
NC_000002.10:g.189632246G>A	NCBI36
NG_011799.1:g.125605C>T
NG_011799.2:g.125605C>T
NG_011799.3:g.171027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-382C>T MANE Select	ENSP00000364000.3:n.2086-382C>T
ENST00000374866.7:c.2086-382C>T	ENSP00000364000.3:n.2086-382C>T
ENST00000470524.2:n.192-382C>T
ENST00000618828.1:c.925-382C>T	ENSP00000482184.1:n.925-382C>T
NM_000393.3:c.2086-382C>T	NP_000384.2:n.2086-382C>T
XM_011510573.1:c.1948-382C>T	XP_011508875.1:n.1948-382C>T
NM_000393.4:c.2086-382C>T	NP_000384.2:n.2086-382C>T
XM_011510573.3:c.1948-382C>T	XP_011508875.1:n.1948-382C>T
NM_000393.5:c.2086-382C>T MANE Select	NP_000384.2:n.2086-382C>T