Canonical Allele Identifier: CA2834933

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1433898
• ClinVar RCV Id: RCV001946198
• dbSNP Id: rs775815805
• ExAC: 4:5630370 T / C
• gnomAD v2: 4-5630370-T-C
• MyVariant Identifiers: chr4:g.5630370T>C (hg19) ; chr4:g.5628643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628643T>C , CM000666.2:g.5628643T>C	GRCh38
NC_000004.11:g.5630370T>C , CM000666.1:g.5630370T>C	GRCh37
NC_000004.10:g.5681271T>C	NCBI36
NG_015821.1:g.85906A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1802A>G MANE Select	ENSP00000342144.5:p.Asn601Ser
ENST00000310917.6:c.1562A>G	ENSP00000311683.2:p.Asn521Ser
ENST00000344408.9:c.1802A>G	ENSP00000342144.5:p.Asn601Ser
ENST00000475313.5:c.1562A>G	ENSP00000431981.1:p.Asn521Ser
ENST00000509670.1:c.*195A>G	ENSP00000423876.1:n.*195A>G
NM_001166136.1:c.1562A>G	NP_001159608.1:p.Asn521Ser
NM_147127.4:c.1802A>G	NP_667338.3:p.Asn601Ser
XM_011513392.1:c.1811A>G	XP_011511694.1:p.Asn604Ser
XM_011513393.1:c.1811A>G	XP_011511695.1:p.Asn604Ser
XM_011513394.1:c.1571A>G	XP_011511696.1:p.Asn524Ser
XM_017007736.1:c.1562A>G	XP_016863225.1:p.Asn521Ser
XM_017007737.1:c.1562A>G	XP_016863226.1:p.Asn521Ser
XM_017007738.1:c.1802A>G	XP_016863227.1:p.Asn601Ser
XM_017007739.1:c.122A>G	XP_016863228.1:p.Asn41Ser
XM_024453893.1:c.122A>G	XP_024309661.1:p.Asn41Ser
XR_001741141.1:n.1867A>G
NM_147127.5:c.1802A>G MANE Select	NP_667338.3:p.Asn601Ser
NM_001166136.2:c.1562A>G	NP_001159608.1:p.Asn521Ser