Canonical Allele Identifier: CA356147493

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5630308G>T (hg19) ; chr4:g.5628581G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628581G>T , CM000666.2:g.5628581G>T	GRCh38
NC_000004.11:g.5630308G>T , CM000666.1:g.5630308G>T	GRCh37
NC_000004.10:g.5681209G>T	NCBI36
NG_015821.1:g.85968C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1864C>A MANE Select	ENSP00000342144.5:p.His622Asn
ENST00000310917.6:c.1624C>A	ENSP00000311683.2:p.His542Asn
ENST00000344408.9:c.1864C>A	ENSP00000342144.5:p.His622Asn
ENST00000475313.5:c.1624C>A	ENSP00000431981.1:p.His542Asn
ENST00000509670.1:c.*257C>A	ENSP00000423876.1:n.*257C>A
NM_001166136.1:c.1624C>A	NP_001159608.1:p.His542Asn
NM_147127.4:c.1864C>A	NP_667338.3:p.His622Asn
XM_011513392.1:c.1873C>A	XP_011511694.1:p.His625Asn
XM_011513393.1:c.1873C>A	XP_011511695.1:p.His625Asn
XM_011513394.1:c.1633C>A	XP_011511696.1:p.His545Asn
XM_017007736.1:c.1624C>A	XP_016863225.1:p.His542Asn
XM_017007737.1:c.1624C>A	XP_016863226.1:p.His542Asn
XM_017007738.1:c.1864C>A	XP_016863227.1:p.His622Asn
XM_017007739.1:c.184C>A	XP_016863228.1:p.His62Asn
XM_024453893.1:c.184C>A	XP_024309661.1:p.His62Asn
XR_001741141.1:n.1929C>A
NM_147127.5:c.1864C>A MANE Select	NP_667338.3:p.His622Asn
NM_001166136.2:c.1624C>A	NP_001159608.1:p.His542Asn