Canonical Allele Identifier: CA438204478
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5685376C>T
GRCh37 chr4:g.5687103C>T
gnomAD v2:
4:5687103 C / T
gnomAD v3:
4:5685376 C / T
gnomAD v4:
chr4-5685376-C-T
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.0000031 (NFE)
ClinVar Allele:
782011
ClinVar RCV:
RCV000978991
ClinVar Variation:
795650
dbSNP:
761317948
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5685376C>T , CM000666.2:g.5685376C>T GRCh38
NC_000004.11:g.5687103C>T , CM000666.1:g.5687103C>T GRCh37
NC_000004.10:g.5738004C>T NCBI36
NG_015821.1:g.29173G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.810G>A MANE Select ENSP00000342144.5:p.Ser270=
ENST00000310917.6:c.570G>A ENSP00000311683.2:p.Ser190=
ENST00000344408.9:c.810G>A ENSP00000342144.5:p.Ser270=
ENST00000475313.5:c.570G>A ENSP00000431981.1:p.Ser190=
ENST00000509670.1:c.570G>A ENSP00000423876.1:p.Ser190=
NM_001166136.1:c.570G>A NP_001159608.1:p.Ser190=
NM_147127.4:c.810G>A NP_667338.3:p.Ser270=
XM_011513392.1:c.810G>A XP_011511694.1:p.Ser270=
XM_011513393.1:c.810G>A XP_011511695.1:p.Ser270=
XM_011513394.1:c.570G>A XP_011511696.1:p.Ser190=
XM_017007736.1:c.570G>A XP_016863225.1:p.Ser190=
XM_017007737.1:c.570G>A XP_016863226.1:p.Ser190=
XM_017007738.1:c.810G>A XP_016863227.1:p.Ser270=
XM_017007739.1:c.-863G>A XP_016863228.1:n.-863G>A
XM_024453893.1:c.-967G>A XP_024309661.1:n.-967G>A
XR_001741141.1:n.875G>A
NM_147127.5:c.810G>A MANE Select NP_667338.3:p.Ser270=
NM_001166136.2:c.570G>A NP_001159608.1:p.Ser190=
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