Canonical Allele Identifier: CA2022511
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1365129
ClinVar RCV Id: RCV001907850
dbSNP Id: rs766743234
ExAC: 2:189927613 G / A
gnomAD v2: 2-189927613-G-A
gnomAD v4: 2-189062887-G-A
MyVariant Identifiers: chr2:g.189927613G>A (hg19) chr2:g.189062887G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062887G>A , CM000664.2:g.189062887G>A GRCh38
NC_000002.11:g.189927613G>A , CM000664.1:g.189927613G>A GRCh37
NC_000002.10:g.189635858G>A NCBI36
NG_011799.1:g.121993C>T
NG_011799.2:g.121993C>T
NG_011799.3:g.167415C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000374866.9:c.1955C>T MANE Select ENSP00000364000.3:p.Pro652Leu
ENST00000374866.7:c.1955C>T ENSP00000364000.3:p.Pro652Leu
ENST00000470524.2:n.61C>T
ENST00000618828.1:c.794C>T ENSP00000482184.1:p.Pro265Leu
NM_000393.3:c.1955C>T NP_000384.2:p.Pro652Leu
XM_011510573.1:c.1817C>T XP_011508875.1:p.Pro606Leu
NM_000393.4:c.1955C>T NP_000384.2:p.Pro652Leu
XM_011510573.3:c.1817C>T XP_011508875.1:p.Pro606Leu
NM_000393.5:c.1955C>T MANE Select NP_000384.2:p.Pro652Leu
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