Canonical Allele Identifier: CA2580995634
Gene: SPTY2D1 HGNC NCBI
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Genomic Alleles

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

Transcript Alleles

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