Canonical Allele Identifier: CA379513975
Gene: SPTY2D1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.18633026C>G (hg19) chr11:g.18611479C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18611479C>G , CM000673.2:g.18611479C>G GRCh38
NC_000011.9:g.18633026C>G , CM000673.1:g.18633026C>G GRCh37
NC_000011.8:g.18589602C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000336349.6:c.1962G>C MANE Select ENSP00000337991.5:p.Lys654Asn
ENST00000336349.5:c.1962G>C ENSP00000337991.5:p.Lys654Asn
NM_194285.2:c.1962G>C NP_919261.2:p.Lys654Asn
XM_011519919.1:c.1710G>C XP_011518221.1:p.Lys570Asn
XM_011519919.2:c.1710G>C XP_011518221.1:p.Lys570Asn
NM_194285.3:c.1962G>C MANE Select NP_919261.2:p.Lys654Asn
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