Canonical Allele Identifier: CA2835239
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5665633C>G
GRCh37 chr4:g.5667360C>G
Revel Score:
ENST00000344938 0.313
ENST00000310917 0.313
ENST00000344408 (MANE Select) 0.313
gnomAD v2:
4:5667360 C / G
gnomAD v3:
4:5665633 C / G
gnomAD v4:
chr4-5665633-C-G
Joint Max Group AF 0.00225079 (AMR)
Genomes Max Group AF 0.00030653 (AMR)
Exomes Max Group AF 0.00283233 (AMR)
ClinVar RCV:
RCV000756099
RCV001079719
ClinVar Variation:
423241
dbSNP:
201083070
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5665633C>G , CM000666.2:g.5665633C>G GRCh38
NC_000004.11:g.5667360C>G , CM000666.1:g.5667360C>G GRCh37
NC_000004.10:g.5718261C>G NCBI36
NG_015821.1:g.48916G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.887G>C MANE Select ENSP00000342144.5:p.Gly296Ala
ENST00000310917.6:c.647G>C ENSP00000311683.2:p.Gly216Ala
ENST00000344408.9:c.887G>C ENSP00000342144.5:p.Gly296Ala
ENST00000475313.5:c.647G>C ENSP00000431981.1:p.Gly216Ala
ENST00000509670.1:c.647G>C ENSP00000423876.1:p.Gly216Ala
NM_001166136.1:c.647G>C NP_001159608.1:p.Gly216Ala
NM_147127.4:c.887G>C NP_667338.3:p.Gly296Ala
XM_011513392.1:c.887G>C XP_011511694.1:p.Gly296Ala
XM_011513393.1:c.887G>C XP_011511695.1:p.Gly296Ala
XM_011513394.1:c.647G>C XP_011511696.1:p.Gly216Ala
XM_017007736.1:c.647G>C XP_016863225.1:p.Gly216Ala
XM_017007737.1:c.647G>C XP_016863226.1:p.Gly216Ala
XM_017007738.1:c.887G>C XP_016863227.1:p.Gly296Ala
XM_017007739.1:c.-786G>C XP_016863228.1:n.-786G>C
XM_024453893.1:c.-890G>C XP_024309661.1:n.-890G>C
XR_001741141.1:n.952G>C
NM_147127.5:c.887G>C MANE Select NP_667338.3:p.Gly296Ala
NM_001166136.2:c.647G>C NP_001159608.1:p.Gly216Ala
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