Canonical Allele Identifier: CA1315424950
Gene: COL5A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050450A= , CM000664.2:g.189050450A= GRCh38
NC_000002.11:g.189915176A= , CM000664.1:g.189915176A= GRCh37
NC_000002.10:g.189623421A= NCBI36
NG_011799.1:g.134430T=
NG_011799.2:g.134430T=
NG_011799.3:g.179852T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+119T= MANE Select ENSP00000364000.3:n.3039+119T=
ENST00000374866.7:c.3039+119T= ENSP00000364000.3:n.3039+119T=
ENST00000618828.1:c.1878+119T= ENSP00000482184.1:n.1878+119T=
NM_000393.3:c.3039+119T= NP_000384.2:n.3039+119T=
XM_011510573.1:c.2901+119T= XP_011508875.1:n.2901+119T=
NM_000393.4:c.3039+119T= NP_000384.2:n.3039+119T=
XM_011510573.3:c.2901+119T= XP_011508875.1:n.2901+119T=
NM_000393.5:c.3039+119T= MANE Select NP_000384.2:n.3039+119T=
Search 100 bp 5'
Search 100 bp 3'