Canonical Allele Identifier: CA2577186610
Gene: COL5A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062794C>T , CM000664.2:g.189062794C>T GRCh38
NC_000002.11:g.189927520C>T , CM000664.1:g.189927520C>T GRCh37
NC_000002.10:g.189635765C>T NCBI36
NG_011799.1:g.122086G>A
NG_011799.2:g.122086G>A
NG_011799.3:g.167508G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.1977+71G>A MANE Select ENSP00000364000.3:n.1977+71G>A
ENST00000374866.7:c.1977+71G>A ENSP00000364000.3:n.1977+71G>A
ENST00000470524.2:n.83+71G>A
ENST00000618828.1:c.816+71G>A ENSP00000482184.1:n.816+71G>A
NM_000393.3:c.1977+71G>A NP_000384.2:n.1977+71G>A
XM_011510573.1:c.1839+71G>A XP_011508875.1:n.1839+71G>A
NM_000393.4:c.1977+71G>A NP_000384.2:n.1977+71G>A
XM_011510573.3:c.1839+71G>A XP_011508875.1:n.1839+71G>A
NM_000393.5:c.1977+71G>A MANE Select NP_000384.2:n.1977+71G>A
Search 100 bp 5'
Search 100 bp 3'