Canonical Allele Identifier: CA5913055
Gene: SPTY2D1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.18611437T>C
GRCh37 chr11:g.18632984T>C
gnomAD v2:
11:18632984 T / C
gnomAD v3:
11:18611437 T / C
gnomAD v4:
chr11-18611437-T-C
Joint Max Group AF 0.73746923 (NFE)
Genomes Max Group AF 0.72884331 (NFE)
Exomes Max Group AF 0.73771484 (NFE)
dbSNP:
10128711
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611437T>C , CM000673.2:g.18611437T>C GRCh38
NC_000011.9:g.18632984T>C , CM000673.1:g.18632984T>C GRCh37
NC_000011.8:g.18589560T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000336349.6:c.1964+40A>G MANE Select ENSP00000337991.5:n.1964+40A>G
ENST00000336349.5:c.1964+40A>G ENSP00000337991.5:n.1964+40A>G
NM_194285.2:c.1964+40A>G NP_919261.2:n.1964+40A>G
XM_011519919.1:c.1712+40A>G XP_011518221.1:n.1712+40A>G
XM_011519919.2:c.1712+40A>G XP_011518221.1:n.1712+40A>G
NM_194285.3:c.1964+40A>G MANE Select NP_919261.2:n.1964+40A>G
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