Canonical Allele Identifier: CA9904867
Gene: SPATA2 HGNC NCBI

Linked Data

dbSNP Id: rs777089827
ExAC: 20:48522453 G / A
gnomAD v2: 20-48522453-G-A
gnomAD v3: 20-49905916-G-A
gnomAD v4: 20-49905916-G-A
MyVariant Identifiers: chr20:g.48522453G>A (hg19) chr20:g.49905916G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49905916G>A , CM000682.2:g.49905916G>A GRCh38
NC_000020.10:g.48522453G>A , CM000682.1:g.48522453G>A GRCh37
NC_000020.9:g.47955860G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000289431.10:c.1266C>T MANE Select ENSP00000289431.5:p.Ser422=
ENST00000289431.9:c.1266C>T ENSP00000289431.5:p.Ser422=
ENST00000422556.1:c.1266C>T ENSP00000416799.1:p.Ser422=
NM_001135773.1:c.1266C>T NP_001129245.1:p.Ser422=
NM_006038.3:c.1266C>T NP_006029.1:p.Ser422=
XM_006723894.1:c.1266C>T XP_006723957.1:p.Ser422=
XM_011529116.1:c.1266C>T XP_011527418.1:p.Ser422=
NM_006038.4:c.1266C>T MANE Select NP_006029.1:p.Ser422=
NM_001135773.2:c.1266C>T NP_001129245.1:p.Ser422=
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