Canonical Allele Identifier: CA1315428573

Gene: COL5A2

Linked Data

• dbSNP Id: rs1685962694

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189058939_189058940insTAAA , CM000664.2:g.189058939_189058940insTAAA	GRCh38
NC_000002.11:g.189923665_189923666insTAAA , CM000664.1:g.189923665_189923666insTAAA	GRCh37
NC_000002.10:g.189631910_189631911insTAAA	NCBI36
NG_011799.1:g.125940_125941insTTTA
NG_011799.2:g.125940_125941insTTTA
NG_011799.3:g.171362_171363insTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.2086-47_2086-46insTTTA MANE Select	ENSP00000364000.3:n.2086-47_2086-46insTTTA
ENST00000374866.7:c.2086-47_2086-46insTTTA	ENSP00000364000.3:n.2086-47_2086-46insTTTA
ENST00000470524.2:n.192-47_192-46insTTTA
ENST00000618828.1:c.925-47_925-46insTTTA	ENSP00000482184.1:n.925-47_925-46insTTTA
NM_000393.3:c.2086-47_2086-46insTTTA	NP_000384.2:n.2086-47_2086-46insTTTA
XM_011510573.1:c.1948-47_1948-46insTTTA	XP_011508875.1:n.1948-47_1948-46insTTTA
NM_000393.4:c.2086-47_2086-46insTTTA	NP_000384.2:n.2086-47_2086-46insTTTA
XM_011510573.3:c.1948-47_1948-46insTTTA	XP_011508875.1:n.1948-47_1948-46insTTTA
NM_000393.5:c.2086-47_2086-46insTTTA MANE Select	NP_000384.2:n.2086-47_2086-46insTTTA