Canonical Allele Identifier: CA2834284
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5568457C>A
GRCh37 chr4:g.5570184C>A
Revel Score:
ENST00000344938 0.072
ENST00000310917 0.072
ENST00000344408 (MANE Select) 0.072
gnomAD v2:
4:5570184 C / A
gnomAD v3:
4:5568457 C / A
gnomAD v4:
chr4-5568457-C-A
Joint Max Group AF 0.00012347 (NFE)
Genomes Max Group AF 0.00009048 (NFE)
Exomes Max Group AF 0.00012161 (NFE)
ClinVar RCV:
RCV000497426
RCV002524091
ClinVar Variation:
432680
dbSNP:
144511301
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5568457C>A , CM000666.2:g.5568457C>A GRCh38
NC_000004.11:g.5570184C>A , CM000666.1:g.5570184C>A GRCh37
NC_000004.10:g.5621085C>A NCBI36
NG_015821.1:g.146092G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.3544G>T MANE Select ENSP00000342144.5:p.Val1182Leu
ENST00000310917.6:c.3304G>T ENSP00000311683.2:p.Val1102Leu
ENST00000344408.9:c.3544G>T ENSP00000342144.5:p.Val1182Leu
ENST00000475313.5:c.3304G>T ENSP00000431981.1:p.Val1102Leu
ENST00000509670.1:c.*1937G>T ENSP00000423876.1:n.*1937G>T
NM_001166136.1:c.3304G>T NP_001159608.1:p.Val1102Leu
NM_147127.4:c.3544G>T NP_667338.3:p.Val1182Leu
XM_011513392.1:c.3553G>T XP_011511694.1:p.Val1185Leu
XM_011513393.1:c.3553G>T XP_011511695.1:p.Val1185Leu
XM_011513394.1:c.3313G>T XP_011511696.1:p.Val1105Leu
XM_017007736.1:c.3304G>T XP_016863225.1:p.Val1102Leu
XM_017007737.1:c.3304G>T XP_016863226.1:p.Val1102Leu
XM_017007739.1:c.1864G>T XP_016863228.1:p.Val622Leu
XM_024453893.1:c.1864G>T XP_024309661.1:p.Val622Leu
XR_001741141.1:n.3394G>T
NM_147127.5:c.3544G>T MANE Select NP_667338.3:p.Val1182Leu
NM_001166136.2:c.3304G>T NP_001159608.1:p.Val1102Leu
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