Canonical Allele Identifier: CA349863921
Gene: COL5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189098743C>G , CM000664.2:g.189098743C>G GRCh38
NC_000002.11:g.189963469C>G , CM000664.1:g.189963469C>G GRCh37
NC_000002.10:g.189671714C>G NCBI36
NG_011799.1:g.86137G>C
NG_011799.2:g.86137G>C
NG_011799.3:g.131559G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.386G>C MANE Select ENSP00000364000.3:p.Gly129Ala
ENST00000649966.1:c.248G>C ENSP00000496785.1:p.Gly83Ala
ENST00000374866.7:c.386G>C ENSP00000364000.3:p.Gly129Ala
ENST00000618828.1:c.-245G>C ENSP00000482184.1:n.-245G>C
NM_000393.3:c.386G>C NP_000384.2:p.Gly129Ala
XM_011510573.1:c.248G>C XP_011508875.1:p.Gly83Ala
NM_000393.4:c.386G>C NP_000384.2:p.Gly129Ala
XM_011510573.3:c.248G>C XP_011508875.1:p.Gly83Ala
NM_000393.5:c.386G>C MANE Select NP_000384.2:p.Gly129Ala