Canonical Allele Identifier: CA2834861

Gene: EVC2

Linked Data

• ClinVar Variation Id: 235459
• ClinVar RCV Id: RCV000224436 ; RCV000345805 ; RCV001082655 ; RCV001154618 ; RCV003937874
• dbSNP Id: rs73198165
• ExAC: 4:5627493 G / T
• gnomAD v2: 4-5627493-G-T
• gnomAD v3: 4-5625766-G-T
• gnomAD v4: 4-5625766-G-T
• MyVariant Identifiers: chr4:g.5627493G>T (hg19) ; chr4:g.5625766G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5625766G>T , CM000666.2:g.5625766G>T	GRCh38
NC_000004.11:g.5627493G>T , CM000666.1:g.5627493G>T	GRCh37
NC_000004.10:g.5678394G>T	NCBI36
NG_015821.1:g.88783C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2029C>A MANE Select	ENSP00000342144.5:p.Arg677=
ENST00000310917.6:c.1789C>A	ENSP00000311683.2:p.Arg597=
ENST00000344408.9:c.2029C>A	ENSP00000342144.5:p.Arg677=
ENST00000475313.5:c.1789C>A	ENSP00000431981.1:p.Arg597=
ENST00000509670.1:c.*422C>A	ENSP00000423876.1:n.*422C>A
NM_001166136.1:c.1789C>A	NP_001159608.1:p.Arg597=
NM_147127.4:c.2029C>A	NP_667338.3:p.Arg677=
XM_011513392.1:c.2038C>A	XP_011511694.1:p.Arg680=
XM_011513393.1:c.2038C>A	XP_011511695.1:p.Arg680=
XM_011513394.1:c.1798C>A	XP_011511696.1:p.Arg600=
XM_017007736.1:c.1789C>A	XP_016863225.1:p.Arg597=
XM_017007737.1:c.1789C>A	XP_016863226.1:p.Arg597=
XM_017007738.1:c.2029C>A	XP_016863227.1:p.Arg677=
XM_017007739.1:c.349C>A	XP_016863228.1:p.Arg117=
XM_024453893.1:c.349C>A	XP_024309661.1:p.Arg117=
XR_001741141.1:n.2094C>A
NM_147127.5:c.2029C>A MANE Select	NP_667338.3:p.Arg677=
NM_001166136.2:c.1789C>A	NP_001159608.1:p.Arg597=