Canonical Allele Identifier: CA389649727

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199822-A-C
• MyVariant Identifiers: chr14:g.50666540A>C (hg19) ; chr14:g.50199822A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199822A>C , CM000676.2:g.50199822A>C	GRCh38
NC_000014.8:g.50666540A>C , CM000676.1:g.50666540A>C	GRCh37
NC_000014.7:g.49736290A>C	NCBI36
NG_051073.1:g.36872T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.379T>G MANE Select	ENSP00000216373.5:p.Ser127Ala
ENST00000216373.9:c.379T>G	ENSP00000216373.5:p.Ser127Ala
ENST00000543680.5:c.379T>G	ENSP00000445328.1:p.Ser127Ala
ENST00000555666.1:n.558T>G
ENST00000556469.5:n.350T>G
NM_006939.2:c.379T>G	NP_008870.2:p.Ser127Ala
XM_005268021.1:c.199T>G	XP_005268078.1:p.Ser67Ala
XM_011537103.1:c.340T>G	XP_011535405.1:p.Ser114Ala
XM_011537104.1:c.379T>G	XP_011535406.1:p.Ser127Ala
XR_943842.1:n.1039+15950A>C
XR_943843.1:n.1039+15950A>C
NM_006939.3:c.379T>G	NP_008870.2:p.Ser127Ala
NM_006939.4:c.379T>G MANE Select	NP_008870.2:p.Ser127Ala