Canonical Allele Identifier: CA7177534

Gene: SOS2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199827T>A , CM000676.2:g.50199827T>A	GRCh38
NC_000014.8:g.50666545T>A , CM000676.1:g.50666545T>A	GRCh37
NC_000014.7:g.49736295T>A	NCBI36
NG_051073.1:g.36867A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006939.4:c.374A>T MANE Select	NP_008870.2:p.His125Leu
ENST00000216373.10:c.374A>T MANE Select	ENSP00000216373.5:p.His125Leu
NM_006939.2:c.374A>T	NP_008870.2:p.His125Leu
NM_006939.3:c.374A>T	NP_008870.2:p.His125Leu
ENST00000216373.9:c.374A>T	ENSP00000216373.5:p.His125Leu
ENST00000543680.5:c.374A>T	ENSP00000445328.1:p.His125Leu
ENST00000555666.1:n.553A>T
ENST00000556469.5:n.345A>T
XM_005268021.1:c.194A>T	XP_005268078.1:p.His65Leu
XM_011537103.1:c.335A>T	XP_011535405.1:p.His112Leu
XM_011537104.1:c.374A>T	XP_011535406.1:p.His125Leu
XR_943842.1:n.1039+15955T>A
XR_943843.1:n.1039+15955T>A