Canonical Allele Identifier: CA389640329

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50597220A>C (hg19) ; chr14:g.50130502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130502A>C , CM000676.2:g.50130502A>C	GRCh38
NC_000014.8:g.50597220A>C , CM000676.1:g.50597220A>C	GRCh37
NC_000014.7:g.49666970A>C	NCBI36
NG_051073.1:g.106192T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.3336T>G MANE Select	ENSP00000216373.5:p.Cys1112Trp
ENST00000216373.9:c.3336T>G	ENSP00000216373.5:p.Cys1112Trp
ENST00000543680.5:c.3237T>G	ENSP00000445328.1:p.Cys1079Trp
NM_006939.2:c.3336T>G	NP_008870.2:p.Cys1112Trp
XM_005268021.1:c.3156T>G	XP_005268078.1:p.Cys1052Trp
XM_011537103.1:c.3297T>G	XP_011535405.1:p.Cys1099Trp
NM_006939.3:c.3336T>G	NP_008870.2:p.Cys1112Trp
NM_006939.4:c.3336T>G MANE Select	NP_008870.2:p.Cys1112Trp