Canonical Allele Identifier: CA15110388
Gene: SERINC2 HGNC NCBI
COSMIC:
COSN6453456 (not active)
MyVariant.info:
GRCh38 chr1:g.31411078T>C
GRCh37 chr1:g.31883925T>C
gnomAD v2:
1:31883925 T / C
gnomAD v3:
1:31411078 T / C
gnomAD v4:
chr1-31411078-T-C
Joint Max Group AF 0.77909639 (EAS)
Genomes Max Group AF 0.77909639 (EAS)
dbSNP:
4478858
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.31411078T>C , CM000663.2:g.31411078T>C GRCh38
NC_000001.10:g.31883925T>C , CM000663.1:g.31883925T>C GRCh37
NC_000001.9:g.31656512T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000373710.5:c.66+643T>C ENSP00000362814.1:n.66+643T>C
ENST00000487207.5:n.219+643T>C
ENST00000536859.5:c.51+643T>C ENSP00000444307.1:n.51+643T>C
NM_001199037.1:c.51+643T>C NP_001185966.1:n.51+643T>C
NM_001199038.1:c.66+643T>C NP_001185967.1:n.66+643T>C
NM_001199038.2:c.66+643T>C NP_001185967.1:n.66+643T>C
NM_001199037.2:c.51+643T>C NP_001185966.1:n.51+643T>C
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