Canonical Allele Identifier: CA2575539781

Gene: SOS2

Linked Data

• gnomAD v4: 14-50180483-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50180483G>T , CM000676.2:g.50180483G>T	GRCh38
NC_000014.8:g.50647201G>T , CM000676.1:g.50647201G>T	GRCh37
NC_000014.7:g.49716951G>T	NCBI36
NG_051073.1:g.56211C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.969+89C>A MANE Select	ENSP00000216373.5:n.969+89C>A
ENST00000216373.9:c.969+89C>A	ENSP00000216373.5:n.969+89C>A
ENST00000543680.5:c.969+89C>A	ENSP00000445328.1:n.969+89C>A
ENST00000555794.2:c.83+89C>A
NM_006939.2:c.969+89C>A	NP_008870.2:n.969+89C>A
XM_005268021.1:c.789+89C>A	XP_005268078.1:n.789+89C>A
XM_011537103.1:c.930+89C>A	XP_011535405.1:n.930+89C>A
XM_011537104.1:c.969+89C>A	XP_011535406.1:n.969+89C>A
XR_943842.1:n.954-3304G>T
XR_943843.1:n.954-3304G>T
NM_006939.3:c.969+89C>A	NP_008870.2:n.969+89C>A
NM_006939.4:c.969+89C>A MANE Select	NP_008870.2:n.969+89C>A