Canonical Allele Identifier: CA349867093
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050633C>A , CM000664.2:g.189050633C>A GRCh38
NC_000002.11:g.189915359C>A , CM000664.1:g.189915359C>A GRCh37
NC_000002.10:g.189623604C>A NCBI36
NG_011799.1:g.134247G>T
NG_011799.2:g.134247G>T
NG_011799.3:g.179669G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2975G>T MANE Select ENSP00000364000.3:p.Arg992Ile
ENST00000374866.7:c.2975G>T ENSP00000364000.3:p.Arg992Ile
ENST00000618828.1:c.1814G>T ENSP00000482184.1:p.Arg605Ile
NM_000393.3:c.2975G>T NP_000384.2:p.Arg992Ile
XM_011510573.1:c.2837G>T XP_011508875.1:p.Arg946Ile
NM_000393.4:c.2975G>T NP_000384.2:p.Arg992Ile
XM_011510573.3:c.2837G>T XP_011508875.1:p.Arg946Ile
NM_000393.5:c.2975G>T MANE Select NP_000384.2:p.Arg992Ile