Canonical Allele Identifier: CA952330066

Gene: KSR2

Linked Data

• dbSNP Id: rs2137443477
• gnomAD v3: 12-117916119-G-T
• gnomAD v4: 12-117916119-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.117916119G>T , CM000674.2:g.117916119G>T	GRCh38
NC_000012.11:g.118353924G>T , CM000674.1:g.118353924G>T	GRCh37
NC_000012.10:g.116838307G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339824.7:c.180+51957C>A MANE Select	ENSP00000339952.4:n.180+51957C>A
ENST00000339824.6:c.180+51957C>A	ENSP00000339952.4:n.180+51957C>A
ENST00000425217.5:c.93+51957C>A	ENSP00000389715.1:n.93+51957C>A
NM_173598.4:c.93+51957C>A	NP_775869.3:n.93+51957C>A
XM_011538224.1:c.180+51957C>A	XP_011536526.1:n.180+51957C>A
XM_011538226.1:c.180+51957C>A	XP_011536528.1:n.180+51957C>A
XM_011538229.1:c.180+51957C>A	XP_011536531.1:n.180+51957C>A
XR_944522.1:n.1014+51957C>A
XM_011538224.3:c.180+51957C>A	XP_011536526.1:n.180+51957C>A
XM_011538226.3:c.180+51957C>A	XP_011536528.1:n.180+51957C>A
XM_011538229.3:c.180+51957C>A	XP_011536531.1:n.180+51957C>A
XM_017019208.2:c.180+51957C>A	XP_016874697.1:n.180+51957C>A
XM_017019209.2:c.180+51957C>A	XP_016874698.1:n.180+51957C>A
NM_173598.6:c.180+51957C>A MANE Select	NP_775869.4:n.180+51957C>A