Canonical Allele Identifier: CA389640359

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130516-G-A
• MyVariant Identifiers: chr14:g.50597234G>A (hg19) ; chr14:g.50130516G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130516G>A , CM000676.2:g.50130516G>A	GRCh38
NC_000014.8:g.50597234G>A , CM000676.1:g.50597234G>A	GRCh37
NC_000014.7:g.49666984G>A	NCBI36
NG_051073.1:g.106178C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3322C>T MANE Select	ENSP00000216373.5:p.Leu1108Phe
ENST00000216373.9:c.3322C>T	ENSP00000216373.5:p.Leu1108Phe
ENST00000543680.5:c.3223C>T	ENSP00000445328.1:p.Leu1075Phe
NM_006939.2:c.3322C>T	NP_008870.2:p.Leu1108Phe
XM_005268021.1:c.3142C>T	XP_005268078.1:p.Leu1048Phe
XM_011537103.1:c.3283C>T	XP_011535405.1:p.Leu1095Phe
NM_006939.3:c.3322C>T	NP_008870.2:p.Leu1108Phe
NM_006939.4:c.3322C>T MANE Select	NP_008870.2:p.Leu1108Phe