Canonical Allele Identifier: CA2834664

Gene: EVC2

Linked Data

• dbSNP Id: rs777123906
• ExAC: 4:5620338 C / G
• gnomAD v2: 4-5620338-C-G
• gnomAD v4: 4-5618611-C-G
• MyVariant Identifiers: chr4:g.5620338C>G (hg19) ; chr4:g.5618611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618611C>G , CM000666.2:g.5618611C>G	GRCh38
NC_000004.11:g.5620338C>G , CM000666.1:g.5620338C>G	GRCh37
NC_000004.10:g.5671239C>G	NCBI36
NG_015821.1:g.95938G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2573G>C MANE Select	ENSP00000342144.5:p.Cys858Ser
ENST00000310917.6:c.2333G>C	ENSP00000311683.2:p.Cys778Ser
ENST00000344408.9:c.2573G>C	ENSP00000342144.5:p.Cys858Ser
ENST00000475313.5:c.2333G>C	ENSP00000431981.1:p.Cys778Ser
ENST00000509670.1:c.*966G>C	ENSP00000423876.1:n.*966G>C
NM_001166136.1:c.2333G>C	NP_001159608.1:p.Cys778Ser
NM_147127.4:c.2573G>C	NP_667338.3:p.Cys858Ser
XM_011513392.1:c.2582G>C	XP_011511694.1:p.Cys861Ser
XM_011513393.1:c.2582G>C	XP_011511695.1:p.Cys861Ser
XM_011513394.1:c.2342G>C	XP_011511696.1:p.Cys781Ser
XM_017007736.1:c.2333G>C	XP_016863225.1:p.Cys778Ser
XM_017007737.1:c.2333G>C	XP_016863226.1:p.Cys778Ser
XM_017007738.1:c.2573G>C	XP_016863227.1:p.Cys858Ser
XM_017007739.1:c.893G>C	XP_016863228.1:p.Cys298Ser
XM_024453893.1:c.893G>C	XP_024309661.1:p.Cys298Ser
XR_001741141.1:n.2638G>C
NM_147127.5:c.2573G>C MANE Select	NP_667338.3:p.Cys858Ser
NM_001166136.2:c.2333G>C	NP_001159608.1:p.Cys778Ser