Canonical Allele Identifier: CA1510911
Gene: SNTG2 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.1173150C>T , CM000664.2:g.1173150C>T GRCh38
NC_000002.11:g.1168836C>T , CM000664.1:g.1168836C>T GRCh37
NC_000002.10:g.1158836C>T NCBI36
NG_029707.1:g.227283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308624.10:c.558C>T MANE Select ENSP00000311837.5:p.Ser186=
ENST00000308624.9:c.558C>T ENSP00000311837.5:p.Ser186=
ENST00000407292.1:c.211-35953C>T ENSP00000385020.1:n.211-35953C>T
ENST00000463442.5:n.436C>T
ENST00000467759.5:n.190C>T
ENST00000475201.5:n.190C>T
ENST00000494178.1:n.310C>T
NM_018968.3:c.558C>T NP_061841.2:p.Ser186=
XM_011510364.1:c.561C>T XP_011508666.1:p.Ser187=
XM_011510365.1:c.381C>T XP_011508667.1:p.Ser127=
XM_011510366.1:c.219C>T XP_011508668.1:p.Ser73=
XM_011510367.1:c.219C>T XP_011508669.1:p.Ser73=
XM_011510368.1:c.219C>T XP_011508670.1:p.Ser73=
XM_011510366.2:c.219C>T XP_011508668.1:p.Ser73=
XM_017004361.1:c.561C>T XP_016859850.1:p.Ser187=
XM_017004362.1:c.561C>T XP_016859851.1:p.Ser187=
XM_017004363.1:c.381C>T XP_016859852.1:p.Ser127=
XM_017004364.1:c.339C>T XP_016859853.1:p.Ser113=
XM_017004365.1:c.561C>T XP_016859854.1:p.Ser187=
XM_017004366.1:c.561C>T XP_016859855.1:p.Ser187=
XM_017004367.1:c.219C>T XP_016859856.1:p.Ser73=
XM_017004368.1:c.561C>T XP_016859857.1:p.Ser187=
XM_017004369.1:c.561C>T XP_016859858.1:p.Ser187=
XM_017004370.1:c.561C>T XP_016859859.1:p.Ser187=
XM_017004371.1:c.561C>T XP_016859860.1:p.Ser187=
XM_017004372.1:c.561C>T XP_016859861.1:p.Ser187=
XM_017004373.2:c.-118C>T XP_016859862.1:n.-118C>T
XM_017004374.1:c.561C>T XP_016859863.1:p.Ser187=
XM_024452970.1:c.-118C>T XP_024308738.1:n.-118C>T
NM_018968.4:c.558C>T MANE Select NP_061841.2:p.Ser186=