Canonical Allele Identifier: CA117705
Gene: SLC34A2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.25664267G>C
GRCh37 chr4:g.25665889G>C
Revel Score:
ENST00000513204 0.531
ENST00000504570 0.531
ENST00000382051 (MANE Select) 0.531
ENST00000503434 0.531
ENST00000507530 0.531
ClinVar RCV:
RCV000006071
ClinVar Variation:
5717
dbSNP:
137853142
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25664267G>C , CM000666.2:g.25664267G>C GRCh38
NC_000004.11:g.25665889G>C , CM000666.1:g.25665889G>C GRCh37
NC_000004.10:g.25274987G>C NCBI36
NG_021185.1:g.13455G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382051.8:c.316G>C MANE Select ENSP00000371483.3:p.Gly106Arg
ENST00000645788.1:c.313G>C ENSP00000494094.1:p.Gly105Arg
ENST00000382051.7:c.316G>C ENSP00000371483.3:p.Gly106Arg
ENST00000503434.5:c.313G>C ENSP00000423021.1:p.Gly105Arg
ENST00000504570.5:c.313G>C ENSP00000425501.1:p.Gly105Arg
ENST00000507530.1:c.316G>C ENSP00000424266.1:p.Gly106Arg
ENST00000513204.5:c.313G>C ENSP00000423038.1:p.Gly105Arg
NM_001177998.1:c.313G>C NP_001171469.1:p.Gly105Arg
NM_001177999.1:c.313G>C NP_001171470.1:p.Gly105Arg
NM_006424.2:c.316G>C NP_006415.2:p.Gly106Arg
NM_006424.3:c.316G>C MANE Select NP_006415.3:p.Gly106Arg
NM_001177998.2:c.313G>C NP_001171469.2:p.Gly105Arg
NM_001177999.2:c.313G>C NP_001171470.2:p.Gly105Arg
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