Canonical Allele Identifier: CA2834619

Gene: EVC2

Linked Data

• ClinVar Variation Id: 348999
• ClinVar RCV Id: RCV000274778 ; RCV002061245
• dbSNP Id: rs200000369
• ExAC: 4:5620192 A / G
• gnomAD v2: 4-5620192-A-G
• gnomAD v3: 4-5618465-A-G
• gnomAD v4: 4-5618465-A-G
• MyVariant Identifiers: chr4:g.5620192A>G (hg19) ; chr4:g.5618465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618465A>G , CM000666.2:g.5618465A>G	GRCh38
NC_000004.11:g.5620192A>G , CM000666.1:g.5620192A>G	GRCh37
NC_000004.10:g.5671093A>G	NCBI36
NG_015821.1:g.96084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2706+13T>C MANE Select	ENSP00000342144.5:n.2706+13T>C
ENST00000310917.6:c.2466+13T>C	ENSP00000311683.2:n.2466+13T>C
ENST00000344408.9:c.2706+13T>C	ENSP00000342144.5:n.2706+13T>C
ENST00000475313.5:c.2466+13T>C	ENSP00000431981.1:n.2466+13T>C
ENST00000509670.1:c.*1099+13T>C	ENSP00000423876.1:n.*1099+13T>C
NM_001166136.1:c.2466+13T>C	NP_001159608.1:n.2466+13T>C
NM_147127.4:c.2706+13T>C	NP_667338.3:n.2706+13T>C
XM_011513392.1:c.2715+13T>C	XP_011511694.1:n.2715+13T>C
XM_011513393.1:c.2715+13T>C	XP_011511695.1:n.2715+13T>C
XM_011513394.1:c.2475+13T>C	XP_011511696.1:n.2475+13T>C
XM_017007736.1:c.2466+13T>C	XP_016863225.1:n.2466+13T>C
XM_017007737.1:c.2466+13T>C	XP_016863226.1:n.2466+13T>C
XM_017007738.1:c.2706+13T>C	XP_016863227.1:n.2706+13T>C
XM_017007739.1:c.1026+13T>C	XP_016863228.1:n.1026+13T>C
XM_024453893.1:c.1026+13T>C	XP_024309661.1:n.1026+13T>C
XR_001741141.1:n.2771+13T>C
NM_147127.5:c.2706+13T>C MANE Select	NP_667338.3:n.2706+13T>C
NM_001166136.2:c.2466+13T>C	NP_001159608.1:n.2466+13T>C