Canonical Allele Identifier: CA1315418753
Gene: COL5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189045821A= , CM000664.2:g.189045821A= GRCh38
NC_000002.11:g.189910547A= , CM000664.1:g.189910547A= GRCh37
NC_000002.10:g.189618792A= NCBI36
NG_011799.1:g.139059T=
NG_011799.2:g.139059T=
NG_011799.3:g.184481T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3288T= MANE Select ENSP00000364000.3:p.Asp1096=
ENST00000374866.7:c.3288T= ENSP00000364000.3:p.Asp1096=
ENST00000618828.1:c.2127T= ENSP00000482184.1:p.Asp709=
NM_000393.3:c.3288T= NP_000384.2:p.Asp1096=
XM_011510573.1:c.3150T= XP_011508875.1:p.Asp1050=
NM_000393.4:c.3288T= NP_000384.2:p.Asp1096=
XM_011510573.3:c.3150T= XP_011508875.1:p.Asp1050=
NM_000393.5:c.3288T= MANE Select NP_000384.2:p.Asp1096=