Canonical Allele Identifier: CA91697047
Gene: EVC2 HGNC NCBI

Linked Data

dbSNP Id: rs955333101
gnomAD v2: 4-5620302-T-C
gnomAD v3: 4-5618575-T-C
gnomAD v4: 4-5618575-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5618575T>C , CM000666.2:g.5618575T>C GRCh38
NC_000004.11:g.5620302T>C , CM000666.1:g.5620302T>C GRCh37
NC_000004.10:g.5671203T>C NCBI36
NG_015821.1:g.95974A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.2609A>G MANE Select ENSP00000342144.5:p.Lys870Arg
ENST00000310917.6:c.2369A>G ENSP00000311683.2:p.Lys790Arg
ENST00000344408.9:c.2609A>G ENSP00000342144.5:p.Lys870Arg
ENST00000475313.5:c.2369A>G ENSP00000431981.1:p.Lys790Arg
ENST00000509670.1:c.*1002A>G ENSP00000423876.1:n.*1002A>G
NM_001166136.1:c.2369A>G NP_001159608.1:p.Lys790Arg
NM_147127.4:c.2609A>G NP_667338.3:p.Lys870Arg
XM_011513392.1:c.2618A>G XP_011511694.1:p.Lys873Arg
XM_011513393.1:c.2618A>G XP_011511695.1:p.Lys873Arg
XM_011513394.1:c.2378A>G XP_011511696.1:p.Lys793Arg
XM_017007736.1:c.2369A>G XP_016863225.1:p.Lys790Arg
XM_017007737.1:c.2369A>G XP_016863226.1:p.Lys790Arg
XM_017007738.1:c.2609A>G XP_016863227.1:p.Lys870Arg
XM_017007739.1:c.929A>G XP_016863228.1:p.Lys310Arg
XM_024453893.1:c.929A>G XP_024309661.1:p.Lys310Arg
XR_001741141.1:n.2674A>G
NM_147127.5:c.2609A>G MANE Select NP_667338.3:p.Lys870Arg
NM_001166136.2:c.2369A>G NP_001159608.1:p.Lys790Arg