Canonical Allele Identifier: CA2835029
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5632005G>T
GRCh37 chr4:g.5633732G>T
gnomAD v2:
4:5633732 G / T
gnomAD v3:
4:5632005 G / T
gnomAD v4:
chr4-5632005-G-T
Joint Max Group AF 0.000005 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000297151
RCV000980610
ClinVar Variation:
349084
dbSNP:
148248777
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5632005G>T , CM000666.2:g.5632005G>T GRCh38
NC_000004.11:g.5633732G>T , CM000666.1:g.5633732G>T GRCh37
NC_000004.10:g.5684633G>T NCBI36
NG_015821.1:g.82544C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1498C>A MANE Select ENSP00000342144.5:p.Arg500=
ENST00000310917.6:c.1258C>A ENSP00000311683.2:p.Arg420=
ENST00000344408.9:c.1498C>A ENSP00000342144.5:p.Arg500=
ENST00000475313.5:c.1258C>A ENSP00000431981.1:p.Arg420=
ENST00000509670.1:c.1250C>A ENSP00000423876.1:p.Ala417Glu
NM_001166136.1:c.1258C>A NP_001159608.1:p.Arg420=
NM_147127.4:c.1498C>A NP_667338.3:p.Arg500=
XM_011513392.1:c.1507C>A XP_011511694.1:p.Arg503=
XM_011513393.1:c.1507C>A XP_011511695.1:p.Arg503=
XM_011513394.1:c.1267C>A XP_011511696.1:p.Arg423=
XM_017007736.1:c.1258C>A XP_016863225.1:p.Arg420=
XM_017007737.1:c.1258C>A XP_016863226.1:p.Arg420=
XM_017007738.1:c.1498C>A XP_016863227.1:p.Arg500=
XM_017007739.1:c.-183C>A XP_016863228.1:n.-183C>A
XM_024453893.1:c.-183C>A XP_024309661.1:n.-183C>A
XR_001741141.1:n.1563C>A
NM_147127.5:c.1498C>A MANE Select NP_667338.3:p.Arg500=
NM_001166136.2:c.1258C>A NP_001159608.1:p.Arg420=
Search 100 bp 5'
Search 100 bp 3'