Canonical Allele Identifier: CA2835410
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5689333G>A
GRCh37 chr4:g.5691060G>A
Revel Score:
ENST00000344938 0.163
ENST00000310917 0.163
ENST00000344408 (MANE Select) 0.163
gnomAD v2:
4:5691060 G / A
gnomAD v3:
4:5689333 G / A
gnomAD v4:
chr4-5689333-G-A
Joint Max Group AF 0.00027627 (AFR)
Genomes Max Group AF 0.00013012 (AFR)
Exomes Max Group AF 0.00037103 (AFR)
ClinVar RCV:
RCV000384115
RCV002480041
ClinVar Variation:
289224
dbSNP:
145758016
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5689333G>A , CM000666.2:g.5689333G>A GRCh38
NC_000004.11:g.5691060G>A , CM000666.1:g.5691060G>A GRCh37
NC_000004.10:g.5741961G>A NCBI36
NG_015821.1:g.25216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.530C>T MANE Select ENSP00000342144.5:p.Ser177Leu
ENST00000310917.6:c.290C>T ENSP00000311683.2:p.Ser97Leu
ENST00000344408.9:c.530C>T ENSP00000342144.5:p.Ser177Leu
ENST00000475313.5:c.290C>T ENSP00000431981.1:p.Ser97Leu
ENST00000509670.1:c.290C>T ENSP00000423876.1:p.Ser97Leu
NM_001166136.1:c.290C>T NP_001159608.1:p.Ser97Leu
NM_147127.4:c.530C>T NP_667338.3:p.Ser177Leu
XM_011513392.1:c.530C>T XP_011511694.1:p.Ser177Leu
XM_011513393.1:c.530C>T XP_011511695.1:p.Ser177Leu
XM_011513394.1:c.290C>T XP_011511696.1:p.Ser97Leu
XM_017007736.1:c.290C>T XP_016863225.1:p.Ser97Leu
XM_017007737.1:c.290C>T XP_016863226.1:p.Ser97Leu
XM_017007738.1:c.530C>T XP_016863227.1:p.Ser177Leu
XM_017007739.1:c.-1143C>T XP_016863228.1:n.-1143C>T
XM_024453893.1:c.-1247C>T XP_024309661.1:n.-1247C>T
XR_001741141.1:n.595C>T
NM_147127.5:c.530C>T MANE Select NP_667338.3:p.Ser177Leu
NM_001166136.2:c.290C>T NP_001159608.1:p.Ser97Leu
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