Canonical Allele Identifier: CA260708304

Gene: SOS2

Linked Data

• dbSNP Id: rs1053637443
• gnomAD v2: 14-50649139-T-G
• gnomAD v3: 14-50182421-T-G
• gnomAD v4: 14-50182421-T-G
• MyVariant Identifiers: chr14:g.50649139T>G (hg19) ; chr14:g.50182421T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.50182421T>G , CM000676.2:g.50182421T>G	GRCh38
NC_000014.8:g.50649139T>G , CM000676.1:g.50649139T>G	GRCh37
NC_000014.7:g.49718889T>G	NCBI36
NG_051073.1:g.54273A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000216373.10:c.858+42A>C MANE Select	ENSP00000216373.5:n.858+42A>C
ENST00000216373.9:c.858+42A>C	ENSP00000216373.5:n.858+42A>C
ENST00000543680.5:c.858+42A>C	ENSP00000445328.1:n.858+42A>C
NM_006939.2:c.858+42A>C	NP_008870.2:n.858+42A>C
XM_005268021.1:c.678+42A>C	XP_005268078.1:n.678+42A>C
XM_011537103.1:c.819+42A>C	XP_011535405.1:n.819+42A>C
XM_011537104.1:c.858+42A>C	XP_011535406.1:n.858+42A>C
XR_943842.1:n.954-1366T>G
XR_943843.1:n.954-1366T>G
NM_006939.3:c.858+42A>C	NP_008870.2:n.858+42A>C
NM_006939.4:c.858+42A>C MANE Select	NP_008870.2:n.858+42A>C