Canonical Allele Identifier: CA1315424924
Gene: COL5A2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050389G= , CM000664.2:g.189050389G= GRCh38
NC_000002.11:g.189915115G= , CM000664.1:g.189915115G= GRCh37
NC_000002.10:g.189623360G= NCBI36
NG_011799.1:g.134491C=
NG_011799.2:g.134491C=
NG_011799.3:g.179913C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+180C= MANE Select ENSP00000364000.3:n.3039+180C=
ENST00000374866.7:c.3039+180C= ENSP00000364000.3:n.3039+180C=
ENST00000618828.1:c.1878+180C= ENSP00000482184.1:n.1878+180C=
NM_000393.3:c.3039+180C= NP_000384.2:n.3039+180C=
XM_011510573.1:c.2901+180C= XP_011508875.1:n.2901+180C=
NM_000393.4:c.3039+180C= NP_000384.2:n.3039+180C=
XM_011510573.3:c.2901+180C= XP_011508875.1:n.2901+180C=
NM_000393.5:c.3039+180C= MANE Select NP_000384.2:n.3039+180C=
Search 100 bp 5'
Search 100 bp 3'