Canonical Allele Identifier: CA437167515
Gene: CLCN2 HGNC NCBI
EIF2B5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.184073290G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184355502G>A , CM000665.2:g.184355502G>A GRCh38
NC_000003.11:g.184073290G>A , CM000665.1:g.184073290G>A GRCh37
NC_000003.10:g.185555984G>A NCBI36
NG_016422.1:g.11102C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000265593.9:c.1198C>T (CLCN2) MANE Select ENSP00000265593.4:p.Leu400=
ENST00000475279.2:c.580C>T (CLCN2)
ENST00000636180.1:c.*174C>T (CLCN2) ENSP00000490374.1:n.*174C>T
ENST00000636241.1:c.1089C>T (CLCN2)
ENST00000636492.1:c.1081C>T (CLCN2) ENSP00000490313.1:p.Leu361=
ENST00000636658.1:c.459C>T (CLCN2)
ENST00000636661.1:c.*1388C>T (CLCN2) ENSP00000490764.1:n.*1388C>T
ENST00000637392.1:n.2474C>T (CLCN2)
ENST00000637538.1:c.504C>T (CLCN2)
ENST00000637909.1:c.1004C>T (CLCN2)
ENST00000638134.1:c.1006C>T (CLCN2)
ENST00000265593.8:c.1198C>T (CLCN2) ENSP00000265593.4:p.Leu400=
ENST00000344937.11:c.1198C>T (CLCN2) ENSP00000345056.7:p.Leu400=
ENST00000430397.5:c.141C>T (CLCN2)
ENST00000434054.6:c.1066C>T (CLCN2) ENSP00000400425.2:p.Leu356=
ENST00000444495.1:c.2106+210795G>A (EIF2B5) ENSP00000409142.1:n.2106+210795G>A
ENST00000457512.1:c.1198C>T (CLCN2) ENSP00000391928.1:p.Leu400=
ENST00000475279.1:n.216C>T (CLCN2)
ENST00000485667.1:n.1205C>T (CLCN2)
NM_001171087.2:c.1198C>T (CLCN2) NP_001164558.1:p.Leu400=
NM_001171088.2:c.1066C>T (CLCN2) NP_001164559.1:p.Leu356=
NM_001171089.2:c.1198C>T (CLCN2) NP_001164560.1:p.Leu400=
NM_004366.5:c.1198C>T (CLCN2) NP_004357.3:p.Leu400=
XM_006713489.1:c.1198C>T (CLCN2) XP_006713552.1:p.Leu400=
XM_006713490.1:c.40C>T (CLCN2) XP_006713553.1:p.Leu14=
XM_011512401.1:c.1198C>T (CLCN2) XP_011510703.1:p.Leu400=
XM_011512402.1:c.1198C>T (CLCN2) XP_011510704.1:p.Leu400=
XM_006713490.2:c.40C>T (CLCN2) XP_006713553.1:p.Leu14=
XR_001740001.1:n.1322C>T (CLCN2)
XR_001740002.1:n.1322C>T (CLCN2)
NM_004366.6:c.1198C>T (CLCN2) MANE Select NP_004357.3:p.Leu400=
NM_001171087.3:c.1198C>T (CLCN2) NP_001164558.1:p.Leu400=
NM_001171088.3:c.1066C>T (CLCN2) NP_001164559.1:p.Leu356=
NM_001171089.3:c.1198C>T (CLCN2) NP_001164560.1:p.Leu400=