Canonical Allele Identifier: CA1315445900
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098709T= , CM000664.2:g.189098709T= GRCh38
NC_000002.11:g.189963435T= , CM000664.1:g.189963435T= GRCh37
NC_000002.10:g.189671680T= NCBI36
NG_011799.1:g.86171A=
NG_011799.2:g.86171A=
NG_011799.3:g.131593A=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.402+18A= MANE Select ENSP00000364000.3:n.402+18A=
ENST00000649966.1:c.264+18A= ENSP00000496785.1:n.264+18A=
ENST00000374866.7:c.402+18A= ENSP00000364000.3:n.402+18A=
ENST00000618828.1:c.-229+18A= ENSP00000482184.1:n.-229+18A=
NM_000393.3:c.402+18A= NP_000384.2:n.402+18A=
XM_011510573.1:c.264+18A= XP_011508875.1:n.264+18A=
NM_000393.4:c.402+18A= NP_000384.2:n.402+18A=
XM_011510573.3:c.264+18A= XP_011508875.1:n.264+18A=
NM_000393.5:c.402+18A= MANE Select NP_000384.2:n.402+18A=