Canonical Allele Identifier: CA486173053

Gene: SOS2

Linked Data

• gnomAD v4: 14-50130514-G-A
• MyVariant Identifiers: chr14:g.50597232G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50130514G>A , CM000676.2:g.50130514G>A	GRCh38
NC_000014.8:g.50597232G>A , CM000676.1:g.50597232G>A	GRCh37
NC_000014.7:g.49666982G>A	NCBI36
NG_051073.1:g.106180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.3324C>T MANE Select	ENSP00000216373.5:p.Leu1108=
ENST00000216373.9:c.3324C>T	ENSP00000216373.5:p.Leu1108=
ENST00000543680.5:c.3225C>T	ENSP00000445328.1:p.Leu1075=
NM_006939.2:c.3324C>T	NP_008870.2:p.Leu1108=
XM_005268021.1:c.3144C>T	XP_005268078.1:p.Leu1048=
XM_011537103.1:c.3285C>T	XP_011535405.1:p.Leu1095=
NM_006939.3:c.3324C>T	NP_008870.2:p.Leu1108=
NM_006939.4:c.3324C>T MANE Select	NP_008870.2:p.Leu1108=