Canonical Allele Identifier: CA7177502

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50188661C>G , CM000676.2:g.50188661C>G	GRCh38
NC_000014.8:g.50655379C>G , CM000676.1:g.50655379C>G	GRCh37
NC_000014.7:g.49725129C>G	NCBI36
NG_051073.1:g.48033G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.550G>C MANE Select	NP_008870.2:p.Val184Leu
ENST00000216373.10:c.550G>C MANE Select	ENSP00000216373.5:p.Val184Leu
NM_006939.2:c.550G>C	NP_008870.2:p.Val184Leu
NM_006939.3:c.550G>C	NP_008870.2:p.Val184Leu
ENST00000216373.9:c.550G>C	ENSP00000216373.5:p.Val184Leu
ENST00000543680.5:c.550G>C	ENSP00000445328.1:p.Val184Leu
ENST00000556469.5:n.482-6055G>C
XM_005268021.1:c.370G>C	XP_005268078.1:p.Val124Leu
XM_011537103.1:c.511G>C	XP_011535405.1:p.Val171Leu
XM_011537104.1:c.550G>C	XP_011535406.1:p.Val184Leu
XR_943842.1:n.1039+4789C>G
XR_943843.1:n.1039+4789C>G