Canonical Allele Identifier: CA1315426014
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189052868T= , CM000664.2:g.189052868T= GRCh38
NC_000002.11:g.189917594T= , CM000664.1:g.189917594T= GRCh37
NC_000002.10:g.189625839T= NCBI36
NG_011799.1:g.132012A=
NG_011799.2:g.132012A=
NG_011799.3:g.177434A=

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.2661+43A= MANE Select ENSP00000364000.3:n.2661+43A=
ENST00000374866.7:c.2661+43A= ENSP00000364000.3:n.2661+43A=
ENST00000618828.1:c.1500+43A= ENSP00000482184.1:n.1500+43A=
NM_000393.3:c.2661+43A= NP_000384.2:n.2661+43A=
XM_011510573.1:c.2523+43A= XP_011508875.1:n.2523+43A=
NM_000393.4:c.2661+43A= NP_000384.2:n.2661+43A=
XM_011510573.3:c.2523+43A= XP_011508875.1:n.2523+43A=
NM_000393.5:c.2661+43A= MANE Select NP_000384.2:n.2661+43A=