Canonical Allele Identifier: CA706558123

Gene: SOS2

Linked Data

• dbSNP Id: rs1296847289
• MyVariant Identifiers: chr14:g.50619667A>C (hg19) ; chr14:g.50152949A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50152949A>C , CM000676.2:g.50152949A>C	GRCh38
NC_000014.8:g.50619667A>C , CM000676.1:g.50619667A>C	GRCh37
NC_000014.7:g.49689417A>C	NCBI36
NG_051073.1:g.83745T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000216373.10:c.2161+121T>G MANE Select	ENSP00000216373.5:n.2161+121T>G
ENST00000216373.9:c.2161+121T>G	ENSP00000216373.5:n.2161+121T>G
ENST00000543680.5:c.2062+121T>G	ENSP00000445328.1:n.2062+121T>G
NM_006939.2:c.2161+121T>G	NP_008870.2:n.2161+121T>G
XM_005268021.1:c.1981+121T>G	XP_005268078.1:n.1981+121T>G
XM_011537103.1:c.2122+121T>G	XP_011535405.1:n.2122+121T>G
XM_011537104.1:c.2161+121T>G	XP_011535406.1:n.2161+121T>G
NM_006939.3:c.2161+121T>G	NP_008870.2:n.2161+121T>G
NM_006939.4:c.2161+121T>G MANE Select	NP_008870.2:n.2161+121T>G