Canonical Allele Identifier: CA389640430

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130548-G-A
• MyVariant Identifiers: chr14:g.50597266G>A (hg19) ; chr14:g.50130548G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130548G>A , CM000676.2:g.50130548G>A	GRCh38
NC_000014.8:g.50597266G>A , CM000676.1:g.50597266G>A	GRCh37
NC_000014.7:g.49667016G>A	NCBI36
NG_051073.1:g.106146C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3290C>T MANE Select	ENSP00000216373.5:p.Ser1097Phe
ENST00000216373.9:c.3290C>T	ENSP00000216373.5:p.Ser1097Phe
ENST00000543680.5:c.3191C>T	ENSP00000445328.1:p.Ser1064Phe
NM_006939.2:c.3290C>T	NP_008870.2:p.Ser1097Phe
XM_005268021.1:c.3110C>T	XP_005268078.1:p.Ser1037Phe
XM_011537103.1:c.3251C>T	XP_011535405.1:p.Ser1084Phe
NM_006939.3:c.3290C>T	NP_008870.2:p.Ser1097Phe
NM_006939.4:c.3290C>T MANE Select	NP_008870.2:p.Ser1097Phe