Canonical Allele Identifier: CA389649632

Gene: SOS2

Linked Data

• gnomAD v4: 14-50199778-A-C
• MyVariant Identifiers: chr14:g.50666496A>C (hg19) ; chr14:g.50199778A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50199778A>C , CM000676.2:g.50199778A>C	GRCh38
NC_000014.8:g.50666496A>C , CM000676.1:g.50666496A>C	GRCh37
NC_000014.7:g.49736246A>C	NCBI36
NG_051073.1:g.36916T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.423T>G MANE Select	ENSP00000216373.5:p.Ile141Met
ENST00000216373.9:c.423T>G	ENSP00000216373.5:p.Ile141Met
ENST00000543680.5:c.423T>G	ENSP00000445328.1:p.Ile141Met
ENST00000555666.1:n.602T>G
ENST00000556469.5:n.394T>G
NM_006939.2:c.423T>G	NP_008870.2:p.Ile141Met
XM_005268021.1:c.243T>G	XP_005268078.1:p.Ile81Met
XM_011537103.1:c.384T>G	XP_011535405.1:p.Ile128Met
XM_011537104.1:c.423T>G	XP_011535406.1:p.Ile141Met
XR_943842.1:n.1039+15906A>C
XR_943843.1:n.1039+15906A>C
NM_006939.3:c.423T>G	NP_008870.2:p.Ile141Met
NM_006939.4:c.423T>G MANE Select	NP_008870.2:p.Ile141Met