Canonical Allele Identifier: CA16042489
Gene: EVC2 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.5697612G>T
GRCh37 chr4:g.5699339G>T
gnomAD v2:
4:5699339 G / T
gnomAD v3:
4:5697612 G / T
gnomAD v4:
chr4-5697612-G-T
Joint Max Group AF 0.00007231 (AFR)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.00007712 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5697612G>T , CM000666.2:g.5697612G>T GRCh38
NC_000004.11:g.5699339G>T , CM000666.1:g.5699339G>T GRCh37
NC_000004.10:g.5750240G>T NCBI36
NG_015821.1:g.16937C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.264C>A MANE Select ENSP00000342144.5:p.Cys88Ter
ENST00000310917.6:c.24C>A ENSP00000311683.2:p.Cys8Ter
ENST00000344408.9:c.264C>A ENSP00000342144.5:p.Cys88Ter
ENST00000475313.5:c.24C>A ENSP00000431981.1:p.Cys8Ter
ENST00000509670.1:c.24C>A ENSP00000423876.1:p.Cys8Ter
NM_001166136.1:c.24C>A NP_001159608.1:p.Cys8Ter
NM_147127.4:c.264C>A NP_667338.3:p.Cys88Ter
XM_011513392.1:c.264C>A XP_011511694.1:p.Cys88Ter
XM_011513393.1:c.264C>A XP_011511695.1:p.Cys88Ter
XM_011513394.1:c.24C>A XP_011511696.1:p.Cys8Ter
XM_017007736.1:c.24C>A XP_016863225.1:p.Cys8Ter
XM_017007737.1:c.24C>A XP_016863226.1:p.Cys8Ter
XM_017007738.1:c.264C>A XP_016863227.1:p.Cys88Ter
XM_017007739.1:c.-1409C>A XP_016863228.1:n.-1409C>A
XM_024453893.1:c.-1513C>A XP_024309661.1:n.-1513C>A
XR_001741141.1:n.329C>A
NM_147127.5:c.264C>A MANE Select NP_667338.3:p.Cys88Ter
NM_001166136.2:c.24C>A NP_001159608.1:p.Cys8Ter
Search 100 bp 5'
Search 100 bp 3'