Canonical Allele Identifier: CA2835385
Gene: EVC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 349095
dbSNP Id: rs140864640
gnomAD v2: 4-5690975-C-T
gnomAD v3: 4-5689248-C-T
gnomAD v4: 4-5689248-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5689248C>T , CM000666.2:g.5689248C>T GRCh38
NC_000004.11:g.5690975C>T , CM000666.1:g.5690975C>T GRCh37
NC_000004.10:g.5741876C>T NCBI36
NG_015821.1:g.25301G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.615G>A MANE Select ENSP00000342144.5:p.Leu205=
ENST00000310917.6:c.375G>A ENSP00000311683.2:p.Leu125=
ENST00000344408.9:c.615G>A ENSP00000342144.5:p.Leu205=
ENST00000475313.5:c.375G>A ENSP00000431981.1:p.Leu125=
ENST00000509670.1:c.375G>A ENSP00000423876.1:p.Leu125=
NM_001166136.1:c.375G>A NP_001159608.1:p.Leu125=
NM_147127.4:c.615G>A NP_667338.3:p.Leu205=
XM_011513392.1:c.615G>A XP_011511694.1:p.Leu205=
XM_011513393.1:c.615G>A XP_011511695.1:p.Leu205=
XM_011513394.1:c.375G>A XP_011511696.1:p.Leu125=
XM_017007736.1:c.375G>A XP_016863225.1:p.Leu125=
XM_017007737.1:c.375G>A XP_016863226.1:p.Leu125=
XM_017007738.1:c.615G>A XP_016863227.1:p.Leu205=
XM_017007739.1:c.-1058G>A XP_016863228.1:n.-1058G>A
XM_024453893.1:c.-1162G>A XP_024309661.1:n.-1162G>A
XR_001741141.1:n.680G>A
NM_147127.5:c.615G>A MANE Select NP_667338.3:p.Leu205=
NM_001166136.2:c.375G>A NP_001159608.1:p.Leu125=