Canonical Allele Identifier: CA2022502
Gene: COL5A2 HGNC NCBI

Linked Data

dbSNP Id: rs752418883
ExAC: 2:189927562 T / TCA
gnomAD v2: 2-189927562-T-TCA
gnomAD v3: 2-189062836-T-TCA
gnomAD v4: 2-189062836-T-TCA
COSMIC: COSN18745360
MyVariant Identifiers: chr2:g.189927564_189927565insCA (hg19) chr2:g.189927562_189927563insCA (hg19) chr2:g.189062838_189062839insCA (hg38) chr2:g.189062836_189062837insCA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189062851_189062852dup , CM000664.2:g.189062851_189062852dup GRCh38
NC_000002.11:g.189927577_189927578dup , CM000664.1:g.189927577_189927578dup GRCh37
NC_000002.10:g.189635822_189635823dup NCBI36
NG_011799.1:g.122042_122043dup
NG_011799.2:g.122042_122043dup
NG_011799.3:g.167464_167465dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.1977+27_1977+28dup MANE Select ENSP00000364000.3:n.1977+27_1977+28dup
ENST00000374866.7:c.1977+27_1977+28dup ENSP00000364000.3:n.1977+27_1977+28dup
ENST00000470524.2:n.83+27_83+28dup
ENST00000618828.1:c.816+27_816+28dup ENSP00000482184.1:n.816+27_816+28dup
NM_000393.3:c.1977+27_1977+28dup NP_000384.2:n.1977+27_1977+28dup
XM_011510573.1:c.1839+27_1839+28dup XP_011508875.1:n.1839+27_1839+28dup
NM_000393.4:c.1977+27_1977+28dup NP_000384.2:n.1977+27_1977+28dup
XM_011510573.3:c.1839+27_1839+28dup XP_011508875.1:n.1839+27_1839+28dup
NM_000393.5:c.1977+27_1977+28dup MANE Select NP_000384.2:n.1977+27_1977+28dup
Search 100 bp 5'
Search 100 bp 3'