Canonical Allele Identifier: CA116167
Gene: EVC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3384
dbSNP Id: rs137852925
gnomAD v2: 4-5630317-G-A
gnomAD v3: 4-5628590-G-A
gnomAD v4: 4-5628590-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628590G>A , CM000666.2:g.5628590G>A GRCh38
NC_000004.11:g.5630317G>A , CM000666.1:g.5630317G>A GRCh37
NC_000004.10:g.5681218G>A NCBI36
NG_015821.1:g.85959C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1855C>T MANE Select ENSP00000342144.5:p.Gln619Ter
ENST00000310917.6:c.1615C>T ENSP00000311683.2:p.Gln539Ter
ENST00000344408.9:c.1855C>T ENSP00000342144.5:p.Gln619Ter
ENST00000475313.5:c.1615C>T ENSP00000431981.1:p.Gln539Ter
ENST00000509670.1:c.*248C>T ENSP00000423876.1:n.*248C>T
NM_001166136.1:c.1615C>T NP_001159608.1:p.Gln539Ter
NM_147127.4:c.1855C>T NP_667338.3:p.Gln619Ter
XM_011513392.1:c.1864C>T XP_011511694.1:p.Gln622Ter
XM_011513393.1:c.1864C>T XP_011511695.1:p.Gln622Ter
XM_011513394.1:c.1624C>T XP_011511696.1:p.Gln542Ter
XM_017007736.1:c.1615C>T XP_016863225.1:p.Gln539Ter
XM_017007737.1:c.1615C>T XP_016863226.1:p.Gln539Ter
XM_017007738.1:c.1855C>T XP_016863227.1:p.Gln619Ter
XM_017007739.1:c.175C>T XP_016863228.1:p.Gln59Ter
XM_024453893.1:c.175C>T XP_024309661.1:p.Gln59Ter
XR_001741141.1:n.1920C>T
NM_147127.5:c.1855C>T MANE Select NP_667338.3:p.Gln619Ter
NM_001166136.2:c.1615C>T NP_001159608.1:p.Gln539Ter