Canonical Allele Identifier: CA15894412
Gene: SKA2 HGNC NCBI

Linked Data

dbSNP Id: rs7208505
gnomAD v2: 17-57187729-G-A
gnomAD v3: 17-59110368-G-A
gnomAD v4: 17-59110368-G-A
MyVariant Identifiers: chr17:g.57187729G>A (hg19) chr17:g.59110368G>A (hg38)
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.59110368G>A , CM000679.2:g.59110368G>A GRCh38
NC_000017.10:g.57187729G>A , CM000679.1:g.57187729G>A GRCh37
NC_000017.9:g.54542511G>A NCBI36
NG_009298.1:g.1538C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000330137.12:c.*1909C>T MANE Select ENSP00000333433.7:n.*1909C>T
ENST00000330137.11:c.*1909C>T ENSP00000333433.7:n.*1909C>T
NM_001100595.1:c.*1965C>T NP_001094065.1:n.*1965C>T
NM_182620.3:c.*1909C>T NP_872426.1:n.*1909C>T
XM_011524745.1:c.*1965C>T XP_011523047.1:n.*1965C>T
NM_001330399.1:c.*1965C>T NP_001317328.1:n.*1965C>T
NM_182620.4:c.*1909C>T MANE Select NP_872426.1:n.*1909C>T
NM_001100595.2:c.*1965C>T NP_001094065.1:n.*1965C>T
NM_001330399.2:c.*1965C>T NP_001317328.1:n.*1965C>T
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