Canonical Allele Identifier: CA2577186478

Gene: COL5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058920_189058921insTGTTT , CM000664.2:g.189058920_189058921insTGTTT	GRCh38
NC_000002.11:g.189923646_189923647insTGTTT , CM000664.1:g.189923646_189923647insTGTTT	GRCh37
NC_000002.10:g.189631891_189631892insTGTTT	NCBI36
NG_011799.1:g.125959_125960insAAACA
NG_011799.2:g.125959_125960insAAACA
NG_011799.3:g.171381_171382insAAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-28_2086-27insAAACA MANE Select	ENSP00000364000.3:n.2086-28_2086-27insAAACA
ENST00000374866.7:c.2086-28_2086-27insAAACA	ENSP00000364000.3:n.2086-28_2086-27insAAACA
ENST00000470524.2:n.192-28_192-27insAAACA
ENST00000618828.1:c.925-28_925-27insAAACA	ENSP00000482184.1:n.925-28_925-27insAAACA
NM_000393.3:c.2086-28_2086-27insAAACA	NP_000384.2:n.2086-28_2086-27insAAACA
XM_011510573.1:c.1948-28_1948-27insAAACA	XP_011508875.1:n.1948-28_1948-27insAAACA
NM_000393.4:c.2086-28_2086-27insAAACA	NP_000384.2:n.2086-28_2086-27insAAACA
XM_011510573.3:c.1948-28_1948-27insAAACA	XP_011508875.1:n.1948-28_1948-27insAAACA
NM_000393.5:c.2086-28_2086-27insAAACA MANE Select	NP_000384.2:n.2086-28_2086-27insAAACA