Canonical Allele Identifier: CA1315430285
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062764T= , CM000664.2:g.189062764T= GRCh38
NC_000002.11:g.189927490T= , CM000664.1:g.189927490T= GRCh37
NC_000002.10:g.189635735T= NCBI36
NG_011799.1:g.122116A=
NG_011799.2:g.122116A=
NG_011799.3:g.167538A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1977+101A= MANE Select ENSP00000364000.3:n.1977+101A=
ENST00000374866.7:c.1977+101A= ENSP00000364000.3:n.1977+101A=
ENST00000470524.2:n.83+101A=
ENST00000618828.1:c.816+101A= ENSP00000482184.1:n.816+101A=
NM_000393.3:c.1977+101A= NP_000384.2:n.1977+101A=
XM_011510573.1:c.1839+101A= XP_011508875.1:n.1839+101A=
NM_000393.4:c.1977+101A= NP_000384.2:n.1977+101A=
XM_011510573.3:c.1839+101A= XP_011508875.1:n.1839+101A=
NM_000393.5:c.1977+101A= MANE Select NP_000384.2:n.1977+101A=