Canonical Allele Identifier: CA916734614

Gene: COL5A2

Linked Data

• dbSNP Id: rs5837121

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058916_189058917insTTTTTTTTTTTTT , CM000664.2:g.189058916_189058917insTTTTTTTTTTTTT	GRCh38
NC_000002.11:g.189923642_189923643insTTTTTTTTTTTTT , CM000664.1:g.189923642_189923643insTTTTTTTTTTTTT	GRCh37
NC_000002.10:g.189631887_189631888insTTTTTTTTTTTTT	NCBI36
NG_011799.1:g.125975_125976insAAAAAAAAAAAAA
NG_011799.2:g.125975_125976insAAAAAAAAAAAAA
NG_011799.3:g.171397_171398insAAAAAAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-12_2086-11insAAAAAAAAAAAAA MANE Select	ENSP00000364000.3:n.2086-12_2086-11insAAAAAAAAAAAAA
ENST00000374866.7:c.2086-12_2086-11insAAAAAAAAAAAAA	ENSP00000364000.3:n.2086-12_2086-11insAAAAAAAAAAAAA
ENST00000470524.2:n.192-12_192-11insAAAAAAAAAAAAA
ENST00000618828.1:c.925-12_925-11insAAAAAAAAAAAAA	ENSP00000482184.1:n.925-12_925-11insAAAAAAAAAAAAA
NM_000393.3:c.2086-12_2086-11insAAAAAAAAAAAAA	NP_000384.2:n.2086-12_2086-11insAAAAAAAAAAAAA
XM_011510573.1:c.1948-12_1948-11insAAAAAAAAAAAAA	XP_011508875.1:n.1948-12_1948-11insAAAAAAAAAAAAA
NM_000393.4:c.2086-12_2086-11insAAAAAAAAAAAAA	NP_000384.2:n.2086-12_2086-11insAAAAAAAAAAAAA
XM_011510573.3:c.1948-12_1948-11insAAAAAAAAAAAAA	XP_011508875.1:n.1948-12_1948-11insAAAAAAAAAAAAA
NM_000393.5:c.2086-12_2086-11insAAAAAAAAAAAAA MANE Select	NP_000384.2:n.2086-12_2086-11insAAAAAAAAAAAAA