Canonical Allele Identifier: CA356145825
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5681314C>A
GRCh37 chr4:g.5683041C>A
gnomAD v4:
chr4-5681314-C-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
ClinVar Allele:
3104223
ClinVar RCV:
RCV003802900
ClinVar Variation:
2941878
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5681314C>A , CM000666.2:g.5681314C>A GRCh38
NC_000004.11:g.5683041C>A , CM000666.1:g.5683041C>A GRCh37
NC_000004.10:g.5733942C>A NCBI36
NG_015821.1:g.33235G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.817-1G>T MANE Select ENSP00000342144.5:n.817-1G>T
ENST00000310917.6:c.577-1G>T ENSP00000311683.2:n.577-1G>T
ENST00000344408.9:c.817-1G>T ENSP00000342144.5:n.817-1G>T
ENST00000475313.5:c.577-1G>T ENSP00000431981.1:n.577-1G>T
ENST00000509670.1:c.577-1G>T ENSP00000423876.1:n.577-1G>T
NM_001166136.1:c.577-1G>T NP_001159608.1:n.577-1G>T
NM_147127.4:c.817-1G>T NP_667338.3:n.817-1G>T
XM_011513392.1:c.817-1G>T XP_011511694.1:n.817-1G>T
XM_011513393.1:c.817-1G>T XP_011511695.1:n.817-1G>T
XM_011513394.1:c.577-1G>T XP_011511696.1:n.577-1G>T
XM_017007736.1:c.577-1G>T XP_016863225.1:n.577-1G>T
XM_017007737.1:c.577-1G>T XP_016863226.1:n.577-1G>T
XM_017007738.1:c.817-1G>T XP_016863227.1:n.817-1G>T
XM_017007739.1:c.-856-1G>T XP_016863228.1:n.-856-1G>T
XM_024453893.1:c.-960-1G>T XP_024309661.1:n.-960-1G>T
XR_001741141.1:n.882-1G>T
NM_147127.5:c.817-1G>T MANE Select NP_667338.3:n.817-1G>T
NM_001166136.2:c.577-1G>T NP_001159608.1:n.577-1G>T
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