Canonical Allele Identifier: CA556046087

Gene: KLHL2

Linked Data

• dbSNP Id: rs1406208051
• gnomAD v2: 4-166147740-C-T
• gnomAD v3: 4-165226588-C-T
• gnomAD v4: 4-165226588-C-T
• MyVariant Identifiers: chr4:g.166147740C>T (hg19) ; chr4:g.165226588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165226588C>T , CM000666.2:g.165226588C>T	GRCh38
NC_000004.11:g.166147740C>T , CM000666.1:g.166147740C>T	GRCh37
NC_000004.10:g.166367190C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000226725.11:c.153-2219C>T MANE Select	ENSP00000226725.6:n.153-2219C>T
ENST00000226725.10:c.153-2219C>T	ENSP00000226725.6:n.153-2219C>T
ENST00000421009.6:c.-17-2219C>T	ENSP00000408974.2:n.-17-2219C>T
ENST00000506824.5:c.164+6529C>T	ENSP00000421844.1:n.164+6529C>T
ENST00000509704.5:c.39-2219C>T	ENSP00000421324.1:n.39-2219C>T
ENST00000511305.5:c.273-2219C>T	ENSP00000422113.1:n.273-2219C>T
ENST00000514860.5:c.165-2219C>T	ENSP00000424198.1:n.165-2219C>T
ENST00000538127.5:c.-6+6529C>T	ENSP00000437526.1:n.-6+6529C>T
NM_001161521.1:c.165-2219C>T	NP_001154993.1:n.165-2219C>T
NM_001161522.1:c.-6+6529C>T	NP_001154994.1:n.-6+6529C>T
NM_007246.3:c.153-2219C>T	NP_009177.3:n.153-2219C>T
XM_005262710.2:c.-6+6529C>T	XP_005262767.1:n.-6+6529C>T
XM_011531572.1:c.273-2219C>T	XP_011529874.1:n.273-2219C>T
XM_011531573.1:c.273-2219C>T	XP_011529875.1:n.273-2219C>T
XM_011531574.1:c.-17-2219C>T	XP_011529876.1:n.-17-2219C>T
XM_011531575.1:c.-17-2219C>T	XP_011529877.1:n.-17-2219C>T
XM_011531576.1:c.-17-2219C>T	XP_011529878.1:n.-17-2219C>T
XM_011531577.1:c.-118+6529C>T	XP_011529879.1:n.-118+6529C>T
XR_938681.1:n.369-2219C>T
XR_938682.1:n.369-2219C>T
NM_001331023.1:c.-118+6529C>T	NP_001317952.1:n.-118+6529C>T
NM_001331024.1:c.-17-2219C>T	NP_001317953.1:n.-17-2219C>T
XM_011531572.2:c.273-2219C>T	XP_011529874.1:n.273-2219C>T
XM_011531576.3:c.-17-2219C>T	XP_011529878.1:n.-17-2219C>T
XM_017007674.1:c.39-2219C>T	XP_016863163.1:n.39-2219C>T
XM_017007675.2:c.39-2219C>T	XP_016863164.1:n.39-2219C>T
XM_017007676.1:c.-6+6529C>T	XP_016863165.1:n.-6+6529C>T
XM_024453881.1:c.39-2219C>T	XP_024309649.1:n.39-2219C>T
XR_001741101.2:n.445-2219C>T
XR_001741102.1:n.260-2219C>T
XR_002959703.1:n.318-2219C>T
XR_002959704.1:n.318-2219C>T
XR_002959705.1:n.318-2219C>T
NM_007246.4:c.153-2219C>T MANE Select	NP_009177.3:n.153-2219C>T
NM_001331023.2:c.-118+6529C>T	NP_001317952.1:n.-118+6529C>T
NM_001331024.2:c.-17-2219C>T	NP_001317953.1:n.-17-2219C>T