Canonical Allele Identifier: CA2662314151
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058900A>C , CM000664.2:g.189058900A>C GRCh38
NC_000002.11:g.189923626A>C , CM000664.1:g.189923626A>C GRCh37
NC_000002.10:g.189631871A>C NCBI36
NG_011799.1:g.125980T>G
NG_011799.2:g.125980T>G
NG_011799.3:g.171402T>G

Transcript Alleles

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