Canonical Allele Identifier: CA438203849

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618604-A-G
• MyVariant Identifiers: chr4:g.5620331A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618604A>G , CM000666.2:g.5618604A>G	GRCh38
NC_000004.11:g.5620331A>G , CM000666.1:g.5620331A>G	GRCh37
NC_000004.10:g.5671232A>G	NCBI36
NG_015821.1:g.95945T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2580T>C MANE Select	ENSP00000342144.5:p.Ala860=
ENST00000310917.6:c.2340T>C	ENSP00000311683.2:p.Ala780=
ENST00000344408.9:c.2580T>C	ENSP00000342144.5:p.Ala860=
ENST00000475313.5:c.2340T>C	ENSP00000431981.1:p.Ala780=
ENST00000509670.1:c.*973T>C	ENSP00000423876.1:n.*973T>C
NM_001166136.1:c.2340T>C	NP_001159608.1:p.Ala780=
NM_147127.4:c.2580T>C	NP_667338.3:p.Ala860=
XM_011513392.1:c.2589T>C	XP_011511694.1:p.Ala863=
XM_011513393.1:c.2589T>C	XP_011511695.1:p.Ala863=
XM_011513394.1:c.2349T>C	XP_011511696.1:p.Ala783=
XM_017007736.1:c.2340T>C	XP_016863225.1:p.Ala780=
XM_017007737.1:c.2340T>C	XP_016863226.1:p.Ala780=
XM_017007738.1:c.2580T>C	XP_016863227.1:p.Ala860=
XM_017007739.1:c.900T>C	XP_016863228.1:p.Ala300=
XM_024453893.1:c.900T>C	XP_024309661.1:p.Ala300=
XR_001741141.1:n.2645T>C
NM_147127.5:c.2580T>C MANE Select	NP_667338.3:p.Ala860=
NM_001166136.2:c.2340T>C	NP_001159608.1:p.Ala780=