Canonical Allele Identifier: CA1315430341
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062868C= , CM000664.2:g.189062868C= GRCh38
NC_000002.11:g.189927594C= , CM000664.1:g.189927594C= GRCh37
NC_000002.10:g.189635839C= NCBI36
NG_011799.1:g.122012G=
NG_011799.2:g.122012G=
NG_011799.3:g.167434G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1974G= MANE Select ENSP00000364000.3:p.Pro658=
ENST00000374866.7:c.1974G= ENSP00000364000.3:p.Pro658=
ENST00000470524.2:n.80G=
ENST00000618828.1:c.813G= ENSP00000482184.1:p.Pro271=
NM_000393.3:c.1974G= NP_000384.2:p.Pro658=
XM_011510573.1:c.1836G= XP_011508875.1:p.Pro612=
NM_000393.4:c.1974G= NP_000384.2:p.Pro658=
XM_011510573.3:c.1836G= XP_011508875.1:p.Pro612=
NM_000393.5:c.1974G= MANE Select NP_000384.2:p.Pro658=