Canonical Allele Identifier: CA1315424858
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050263T= , CM000664.2:g.189050263T= GRCh38
NC_000002.11:g.189914989T= , CM000664.1:g.189914989T= GRCh37
NC_000002.10:g.189623234T= NCBI36
NG_011799.1:g.134617A=
NG_011799.2:g.134617A=
NG_011799.3:g.180039A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3039+306A= MANE Select ENSP00000364000.3:n.3039+306A=
ENST00000374866.7:c.3039+306A= ENSP00000364000.3:n.3039+306A=
ENST00000618828.1:c.1878+306A= ENSP00000482184.1:n.1878+306A=
NM_000393.3:c.3039+306A= NP_000384.2:n.3039+306A=
XM_011510573.1:c.2901+306A= XP_011508875.1:n.2901+306A=
NM_000393.4:c.3039+306A= NP_000384.2:n.3039+306A=
XM_011510573.3:c.2901+306A= XP_011508875.1:n.2901+306A=
NM_000393.5:c.3039+306A= MANE Select NP_000384.2:n.3039+306A=