Canonical Allele Identifier: CA7177602

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50204355T>C , CM000676.2:g.50204355T>C	GRCh38
NC_000014.8:g.50671073T>C , CM000676.1:g.50671073T>C	GRCh37
NC_000014.7:g.49740823T>C	NCBI36
NG_051073.1:g.32339A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.142A>G MANE Select	NP_008870.2:p.Ile48Val
ENST00000216373.10:c.142A>G MANE Select	ENSP00000216373.5:p.Ile48Val
NM_006939.2:c.142A>G	NP_008870.2:p.Ile48Val
NM_006939.3:c.142A>G	NP_008870.2:p.Ile48Val
ENST00000216373.9:c.142A>G	ENSP00000216373.5:p.Ile48Val
ENST00000543680.5:c.142A>G	ENSP00000445328.1:p.Ile48Val
ENST00000555666.1:n.321A>G
ENST00000556452.1:c.201A>G	ENSP00000452553.1:p.Ile67Met
ENST00000556469.5:n.113A>G
XM_005268021.1:c.-39A>G	XP_005268078.1:n.-39A>G
XM_011537103.1:c.103A>G	XP_011535405.1:p.Ile35Val
XM_011537104.1:c.142A>G	XP_011535406.1:p.Ile48Val
XR_943842.1:n.1039+20483T>C
XR_943843.1:n.1039+20483T>C