Canonical Allele Identifier: CA349867104
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050636T>C , CM000664.2:g.189050636T>C GRCh38
NC_000002.11:g.189915362T>C , CM000664.1:g.189915362T>C GRCh37
NC_000002.10:g.189623607T>C NCBI36
NG_011799.1:g.134244A>G
NG_011799.2:g.134244A>G
NG_011799.3:g.179666A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.2972A>G MANE Select ENSP00000364000.3:p.Gln991Arg
ENST00000374866.7:c.2972A>G ENSP00000364000.3:p.Gln991Arg
ENST00000618828.1:c.1811A>G ENSP00000482184.1:p.Gln604Arg
NM_000393.3:c.2972A>G NP_000384.2:p.Gln991Arg
XM_011510573.1:c.2834A>G XP_011508875.1:p.Gln945Arg
NM_000393.4:c.2972A>G NP_000384.2:p.Gln991Arg
XM_011510573.3:c.2834A>G XP_011508875.1:p.Gln945Arg
NM_000393.5:c.2972A>G MANE Select NP_000384.2:p.Gln991Arg