Canonical Allele Identifier: CA2662314140
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058818C>G , CM000664.2:g.189058818C>G GRCh38
NC_000002.11:g.189923544C>G , CM000664.1:g.189923544C>G GRCh37
NC_000002.10:g.189631789C>G NCBI36
NG_011799.1:g.126062G>C
NG_011799.2:g.126062G>C
NG_011799.3:g.171484G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2130+31G>C MANE Select ENSP00000364000.3:n.2130+31G>C
ENST00000374866.7:c.2130+31G>C ENSP00000364000.3:n.2130+31G>C
ENST00000470524.2:n.236+31G>C
ENST00000618828.1:c.969+31G>C ENSP00000482184.1:n.969+31G>C
NM_000393.3:c.2130+31G>C NP_000384.2:n.2130+31G>C
XM_011510573.1:c.1992+31G>C XP_011508875.1:n.1992+31G>C
NM_000393.4:c.2130+31G>C NP_000384.2:n.2130+31G>C
XM_011510573.3:c.1992+31G>C XP_011508875.1:n.1992+31G>C
NM_000393.5:c.2130+31G>C MANE Select NP_000384.2:n.2130+31G>C