Canonical Allele Identifier: CA486169241

Gene: SOS2

Linked Data

• dbSNP Id: rs1176038658
• gnomAD v2: 14-50647299-T-C
• gnomAD v4: 14-50180581-T-C
• MyVariant Identifiers: chr14:g.50647299T>C (hg19) ; chr14:g.50180581T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180581T>C , CM000676.2:g.50180581T>C	GRCh38
NC_000014.8:g.50647299T>C , CM000676.1:g.50647299T>C	GRCh37
NC_000014.7:g.49717049T>C	NCBI36
NG_051073.1:g.56113A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.960A>G MANE Select	ENSP00000216373.5:p.Leu320=
ENST00000216373.9:c.960A>G	ENSP00000216373.5:p.Leu320=
ENST00000543680.5:c.960A>G	ENSP00000445328.1:p.Leu320=
ENST00000555794.2:c.74A>G
NM_006939.2:c.960A>G	NP_008870.2:p.Leu320=
XM_005268021.1:c.780A>G	XP_005268078.1:p.Leu260=
XM_011537103.1:c.921A>G	XP_011535405.1:p.Leu307=
XM_011537104.1:c.960A>G	XP_011535406.1:p.Leu320=
XR_943842.1:n.954-3206T>C
XR_943843.1:n.954-3206T>C
NM_006939.3:c.960A>G	NP_008870.2:p.Leu320=
NM_006939.4:c.960A>G MANE Select	NP_008870.2:p.Leu320=