Canonical Allele Identifier: CA389640573

Gene: SOS2

Linked Data

• MyVariant Identifiers: chr14:g.50597312C>G (hg19) ; chr14:g.50130594C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130594C>G , CM000676.2:g.50130594C>G	GRCh38
NC_000014.8:g.50597312C>G , CM000676.1:g.50597312C>G	GRCh37
NC_000014.7:g.49667062C>G	NCBI36
NG_051073.1:g.106100G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3244G>C MANE Select	ENSP00000216373.5:p.Ala1082Pro
ENST00000216373.9:c.3244G>C	ENSP00000216373.5:p.Ala1082Pro
ENST00000543680.5:c.3145G>C	ENSP00000445328.1:p.Ala1049Pro
NM_006939.2:c.3244G>C	NP_008870.2:p.Ala1082Pro
XM_005268021.1:c.3064G>C	XP_005268078.1:p.Ala1022Pro
XM_011537103.1:c.3205G>C	XP_011535405.1:p.Ala1069Pro
NM_006939.3:c.3244G>C	NP_008870.2:p.Ala1082Pro
NM_006939.4:c.3244G>C MANE Select	NP_008870.2:p.Ala1082Pro