Canonical Allele Identifier: CA2834910
Gene: EVC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 349076
dbSNP Id: rs61218140
gnomAD v2: 4-5630275-T-C
gnomAD v3: 4-5628548-T-C
gnomAD v4: 4-5628548-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5628548T>C , CM000666.2:g.5628548T>C GRCh38
NC_000004.11:g.5630275T>C , CM000666.1:g.5630275T>C GRCh37
NC_000004.10:g.5681176T>C NCBI36
NG_015821.1:g.86001A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000344408.10:c.1886+11A>G MANE Select ENSP00000342144.5:n.1886+11A>G
ENST00000310917.6:c.1646+11A>G ENSP00000311683.2:n.1646+11A>G
ENST00000344408.9:c.1886+11A>G ENSP00000342144.5:n.1886+11A>G
ENST00000475313.5:c.1646+11A>G ENSP00000431981.1:n.1646+11A>G
ENST00000509670.1:c.*279+11A>G ENSP00000423876.1:n.*279+11A>G
NM_001166136.1:c.1646+11A>G NP_001159608.1:n.1646+11A>G
NM_147127.4:c.1886+11A>G NP_667338.3:n.1886+11A>G
XM_011513392.1:c.1895+11A>G XP_011511694.1:n.1895+11A>G
XM_011513393.1:c.1895+11A>G XP_011511695.1:n.1895+11A>G
XM_011513394.1:c.1655+11A>G XP_011511696.1:n.1655+11A>G
XM_017007736.1:c.1646+11A>G XP_016863225.1:n.1646+11A>G
XM_017007737.1:c.1646+11A>G XP_016863226.1:n.1646+11A>G
XM_017007738.1:c.1886+11A>G XP_016863227.1:n.1886+11A>G
XM_017007739.1:c.206+11A>G XP_016863228.1:n.206+11A>G
XM_024453893.1:c.206+11A>G XP_024309661.1:n.206+11A>G
XR_001741141.1:n.1951+11A>G
NM_147127.5:c.1886+11A>G MANE Select NP_667338.3:n.1886+11A>G
NM_001166136.2:c.1646+11A>G NP_001159608.1:n.1646+11A>G