Canonical Allele Identifier: CA7177114
Gene: SOS2 HGNC NCBI

Linked Data

dbSNP Id: rs754644608
ExAC: 14:50619749 G / T
gnomAD v2: 14-50619749-G-T
gnomAD v4: 14-50153031-G-T
MyVariant Identifiers: chr14:g.50619749G>T (hg19) chr14:g.50153031G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50153031G>T , CM000676.2:g.50153031G>T GRCh38
NC_000014.8:g.50619749G>T , CM000676.1:g.50619749G>T GRCh37
NC_000014.7:g.49689499G>T NCBI36
NG_051073.1:g.83663C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000216373.10:c.2161+39C>A MANE Select ENSP00000216373.5:n.2161+39C>A
ENST00000216373.9:c.2161+39C>A ENSP00000216373.5:n.2161+39C>A
ENST00000543680.5:c.2062+39C>A ENSP00000445328.1:n.2062+39C>A
NM_006939.2:c.2161+39C>A NP_008870.2:n.2161+39C>A
XM_005268021.1:c.1981+39C>A XP_005268078.1:n.1981+39C>A
XM_011537103.1:c.2122+39C>A XP_011535405.1:n.2122+39C>A
XM_011537104.1:c.2161+39C>A XP_011535406.1:n.2161+39C>A
NM_006939.3:c.2161+39C>A NP_008870.2:n.2161+39C>A
NM_006939.4:c.2161+39C>A MANE Select NP_008870.2:n.2161+39C>A
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