Canonical Allele Identifier: CA2834627
Gene: EVC2 HGNC NCBI

Linked Data

dbSNP Id: rs776093627
gnomAD v2: 4-5620218-G-A
gnomAD v4: 4-5618491-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618491G>A , CM000666.2:g.5618491G>A GRCh38
NC_000004.11:g.5620218G>A , CM000666.1:g.5620218G>A GRCh37
NC_000004.10:g.5671119G>A NCBI36
NG_015821.1:g.96058C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2693C>T MANE Select ENSP00000342144.5:p.Ala898Val
ENST00000310917.6:c.2453C>T ENSP00000311683.2:p.Ala818Val
ENST00000344408.9:c.2693C>T ENSP00000342144.5:p.Ala898Val
ENST00000475313.5:c.2453C>T ENSP00000431981.1:p.Ala818Val
ENST00000509670.1:c.*1086C>T ENSP00000423876.1:n.*1086C>T
NM_001166136.1:c.2453C>T NP_001159608.1:p.Ala818Val
NM_147127.4:c.2693C>T NP_667338.3:p.Ala898Val
XM_011513392.1:c.2702C>T XP_011511694.1:p.Ala901Val
XM_011513393.1:c.2702C>T XP_011511695.1:p.Ala901Val
XM_011513394.1:c.2462C>T XP_011511696.1:p.Ala821Val
XM_017007736.1:c.2453C>T XP_016863225.1:p.Ala818Val
XM_017007737.1:c.2453C>T XP_016863226.1:p.Ala818Val
XM_017007738.1:c.2693C>T XP_016863227.1:p.Ala898Val
XM_017007739.1:c.1013C>T XP_016863228.1:p.Ala338Val
XM_024453893.1:c.1013C>T XP_024309661.1:p.Ala338Val
XR_001741141.1:n.2758C>T
NM_147127.5:c.2693C>T MANE Select NP_667338.3:p.Ala898Val
NM_001166136.2:c.2453C>T NP_001159608.1:p.Ala818Val