Canonical Allele Identifier: CA430324407
Gene: COL5A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189927618A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062892A>C , CM000664.2:g.189062892A>C GRCh38
NC_000002.11:g.189927618A>C , CM000664.1:g.189927618A>C GRCh37
NC_000002.10:g.189635863A>C NCBI36
NG_011799.1:g.121988T>G
NG_011799.2:g.121988T>G
NG_011799.3:g.167410T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1950T>G MANE Select ENSP00000364000.3:p.Val650=
ENST00000374866.7:c.1950T>G ENSP00000364000.3:p.Val650=
ENST00000470524.2:n.56T>G
ENST00000618828.1:c.789T>G ENSP00000482184.1:p.Val263=
NM_000393.3:c.1950T>G NP_000384.2:p.Val650=
XM_011510573.1:c.1812T>G XP_011508875.1:p.Val604=
NM_000393.4:c.1950T>G NP_000384.2:p.Val650=
XM_011510573.3:c.1812T>G XP_011508875.1:p.Val604=
NM_000393.5:c.1950T>G MANE Select NP_000384.2:p.Val650=