Canonical Allele Identifier: CA3129792

Gene: KLHL2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.165313309G>C , CM000666.2:g.165313309G>C	GRCh38
NC_000004.11:g.166234461G>C , CM000666.1:g.166234461G>C	GRCh37
NC_000004.10:g.166453911G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_007246.4:c.1411G>C MANE Select	NP_009177.3:p.Ala471Pro
ENST00000226725.11:c.1411G>C MANE Select	ENSP00000226725.6:p.Ala471Pro
NM_001161521.1:c.1423G>C	NP_001154993.1:p.Ala475Pro
NM_001161522.1:c.1147G>C	NP_001154994.1:p.Ala383Pro
NM_001331023.1:c.913G>C	NP_001317952.1:p.Ala305Pro
NM_001331023.2:c.913G>C	NP_001317952.1:p.Ala305Pro
NM_001331024.1:c.1120G>C	NP_001317953.1:p.Ala374Pro
NM_001331024.2:c.1120G>C	NP_001317953.1:p.Ala374Pro
NM_007246.3:c.1411G>C	NP_009177.3:p.Ala471Pro
ENST00000226725.10:c.1411G>C	ENSP00000226725.6:p.Ala471Pro
ENST00000421009.6:c.1120G>C	ENSP00000408974.2:p.Ala374Pro
ENST00000506761.1:c.913G>C	ENSP00000424108.1:p.Ala305Pro
ENST00000506824.5:c.*1148G>C	ENSP00000421844.1:n.*1148G>C
ENST00000509028.1:n.852G>C
ENST00000514860.5:c.1423G>C	ENSP00000424198.1:p.Ala475Pro
ENST00000538127.5:c.1147G>C	ENSP00000437526.1:p.Ala383Pro
XM_005262710.2:c.1147G>C	XP_005262767.1:p.Ala383Pro
XM_011531572.1:c.1531G>C	XP_011529874.1:p.Ala511Pro
XM_011531572.2:c.1531G>C	XP_011529874.1:p.Ala511Pro
XM_011531573.1:c.1531G>C	XP_011529875.1:p.Ala511Pro
XM_011531574.1:c.1120G>C	XP_011529876.1:p.Ala374Pro
XM_011531575.1:c.1120G>C	XP_011529877.1:p.Ala374Pro
XM_011531576.1:c.1120G>C	XP_011529878.1:p.Ala374Pro
XM_011531576.3:c.1120G>C	XP_011529878.1:p.Ala374Pro
XM_011531577.1:c.913G>C	XP_011529879.1:p.Ala305Pro
XM_017007674.1:c.1297G>C	XP_016863163.1:p.Ala433Pro
XM_017007676.1:c.1147G>C	XP_016863165.1:p.Ala383Pro
XM_024453881.1:c.1297G>C	XP_024309649.1:p.Ala433Pro
XR_001741101.2:n.1703G>C
XR_001741102.1:n.1518G>C
XR_002959703.1:n.1576G>C
XR_002959704.1:n.1458G>C
XR_002959705.1:n.1458G>C
XR_938681.1:n.1777G>C
XR_938682.1:n.1509G>C