Canonical Allele Identifier: CA2834487
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5584657G>A
GRCh37 chr4:g.5586384G>A
Revel Score:
ENST00000344938 0.140
ENST00000310917 0.140
ENST00000344408 (MANE Select) 0.140
gnomAD v2:
4:5586384 G / A
gnomAD v3:
4:5584657 G / A
gnomAD v4:
chr4-5584657-G-A
Joint Max Group AF 0.10863317 (AFR)
Genomes Max Group AF 0.1060996 (AFR)
Exomes Max Group AF 0.10994135 (AFR)
ClinVar Allele:
251507
ClinVar RCV:
RCV000252715
RCV000360037
RCV000532600
ClinVar Variation:
262615
dbSNP:
60809236
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5584657G>A , CM000666.2:g.5584657G>A GRCh38
NC_000004.11:g.5586384G>A , CM000666.1:g.5586384G>A GRCh37
NC_000004.10:g.5637285G>A NCBI36
NG_015821.1:g.129892C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.3023C>T MANE Select ENSP00000342144.5:p.Ser1008Leu
ENST00000310917.6:c.2783C>T ENSP00000311683.2:p.Ser928Leu
ENST00000344408.9:c.3023C>T ENSP00000342144.5:p.Ser1008Leu
ENST00000475313.5:c.2783C>T ENSP00000431981.1:p.Ser928Leu
ENST00000509670.1:c.*1416C>T ENSP00000423876.1:n.*1416C>T
NM_001166136.1:c.2783C>T NP_001159608.1:p.Ser928Leu
NM_147127.4:c.3023C>T NP_667338.3:p.Ser1008Leu
XM_011513392.1:c.3032C>T XP_011511694.1:p.Ser1011Leu
XM_011513393.1:c.3032C>T XP_011511695.1:p.Ser1011Leu
XM_011513394.1:c.2792C>T XP_011511696.1:p.Ser931Leu
XM_017007736.1:c.2783C>T XP_016863225.1:p.Ser928Leu
XM_017007737.1:c.2783C>T XP_016863226.1:p.Ser928Leu
XM_017007738.1:c.3023C>T XP_016863227.1:p.Ser1008Leu
XM_017007739.1:c.1343C>T XP_016863228.1:p.Ser448Leu
XM_024453893.1:c.1343C>T XP_024309661.1:p.Ser448Leu
XR_001741141.1:n.3088C>T
NM_147127.5:c.3023C>T MANE Select NP_667338.3:p.Ser1008Leu
NM_001166136.2:c.2783C>T NP_001159608.1:p.Ser928Leu
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