Canonical Allele Identifier: CA1315428565
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189058927G= , CM000664.2:g.189058927G= GRCh38
NC_000002.11:g.189923653G= , CM000664.1:g.189923653G= GRCh37
NC_000002.10:g.189631898G= NCBI36
NG_011799.1:g.125953C=
NG_011799.2:g.125953C=
NG_011799.3:g.171375C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2086-34C= MANE Select ENSP00000364000.3:n.2086-34C=
ENST00000374866.7:c.2086-34C= ENSP00000364000.3:n.2086-34C=
ENST00000470524.2:n.192-34C=
ENST00000618828.1:c.925-34C= ENSP00000482184.1:n.925-34C=
NM_000393.3:c.2086-34C= NP_000384.2:n.2086-34C=
XM_011510573.1:c.1948-34C= XP_011508875.1:n.1948-34C=
NM_000393.4:c.2086-34C= NP_000384.2:n.2086-34C=
XM_011510573.3:c.1948-34C= XP_011508875.1:n.1948-34C=
NM_000393.5:c.2086-34C= MANE Select NP_000384.2:n.2086-34C=