Canonical Allele Identifier: CA2624771863

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180455-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180455C>A , CM000676.2:g.50180455C>A	GRCh38
NC_000014.8:g.50647173C>A , CM000676.1:g.50647173C>A	GRCh37
NC_000014.7:g.49716923C>A	NCBI36
NG_051073.1:g.56239G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.969+117G>T MANE Select	ENSP00000216373.5:n.969+117G>T
ENST00000216373.9:c.969+117G>T	ENSP00000216373.5:n.969+117G>T
ENST00000543680.5:c.969+117G>T	ENSP00000445328.1:n.969+117G>T
ENST00000555794.2:c.83+117G>T
NM_006939.2:c.969+117G>T	NP_008870.2:n.969+117G>T
XM_005268021.1:c.789+117G>T	XP_005268078.1:n.789+117G>T
XM_011537103.1:c.930+117G>T	XP_011535405.1:n.930+117G>T
XM_011537104.1:c.969+117G>T	XP_011535406.1:n.969+117G>T
XR_943842.1:n.954-3332C>A
XR_943843.1:n.954-3332C>A
NM_006939.3:c.969+117G>T	NP_008870.2:n.969+117G>T
NM_006939.4:c.969+117G>T MANE Select	NP_008870.2:n.969+117G>T