Canonical Allele Identifier: CA1315424886
Gene: COL5A2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050309G= , CM000664.2:g.189050309G= GRCh38
NC_000002.11:g.189915035G= , CM000664.1:g.189915035G= GRCh37
NC_000002.10:g.189623280G= NCBI36
NG_011799.1:g.134571C=
NG_011799.2:g.134571C=
NG_011799.3:g.179993C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+260C= MANE Select ENSP00000364000.3:n.3039+260C=
ENST00000374866.7:c.3039+260C= ENSP00000364000.3:n.3039+260C=
ENST00000618828.1:c.1878+260C= ENSP00000482184.1:n.1878+260C=
NM_000393.3:c.3039+260C= NP_000384.2:n.3039+260C=
XM_011510573.1:c.2901+260C= XP_011508875.1:n.2901+260C=
NM_000393.4:c.3039+260C= NP_000384.2:n.3039+260C=
XM_011510573.3:c.2901+260C= XP_011508875.1:n.2901+260C=
NM_000393.5:c.3039+260C= MANE Select NP_000384.2:n.3039+260C=
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