Canonical Allele Identifier: CA389640422

Gene: SOS2

Linked Data

• dbSNP Id: rs373071240
• gnomAD v3: 14-50130543-C-T
• gnomAD v4: 14-50130543-C-T
• MyVariant Identifiers: chr14:g.50597261C>T (hg19) ; chr14:g.50130543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130543C>T , CM000676.2:g.50130543C>T	GRCh38
NC_000014.8:g.50597261C>T , CM000676.1:g.50597261C>T	GRCh37
NC_000014.7:g.49667011C>T	NCBI36
NG_051073.1:g.106151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3295G>A MANE Select	ENSP00000216373.5:p.Asp1099Asn
ENST00000216373.9:c.3295G>A	ENSP00000216373.5:p.Asp1099Asn
ENST00000543680.5:c.3196G>A	ENSP00000445328.1:p.Asp1066Asn
NM_006939.2:c.3295G>A	NP_008870.2:p.Asp1099Asn
XM_005268021.1:c.3115G>A	XP_005268078.1:p.Asp1039Asn
XM_011537103.1:c.3256G>A	XP_011535405.1:p.Asp1086Asn
NM_006939.3:c.3295G>A	NP_008870.2:p.Asp1099Asn
NM_006939.4:c.3295G>A MANE Select	NP_008870.2:p.Asp1099Asn