Canonical Allele Identifier: CA356147966

Gene: EVC2

Linked Data

• dbSNP Id: rs1722200895
• MyVariant Identifiers: chr4:g.5566985C>T (hg19) ; chr4:g.5565258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5565258C>T , CM000666.2:g.5565258C>T	GRCh38
NC_000004.11:g.5566985C>T , CM000666.1:g.5566985C>T	GRCh37
NC_000004.10:g.5617886C>T	NCBI36
NG_015821.1:g.149291G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.3659G>A MANE Select	ENSP00000342144.5:p.Ser1220Asn
ENST00000310917.6:c.3419G>A	ENSP00000311683.2:p.Ser1140Asn
ENST00000344408.9:c.3659G>A	ENSP00000342144.5:p.Ser1220Asn
ENST00000475313.5:c.3419G>A	ENSP00000431981.1:p.Arg1140Lys
ENST00000509670.1:c.*2052G>A	ENSP00000423876.1:n.*2052G>A
NM_001166136.1:c.3419G>A	NP_001159608.1:p.Ser1140Asn
NM_147127.4:c.3659G>A	NP_667338.3:p.Ser1220Asn
XM_011513392.1:c.3668G>A	XP_011511694.1:p.Ser1223Asn
XM_011513393.1:c.3668G>A	XP_011511695.1:p.Arg1223Lys
XM_011513394.1:c.3428G>A	XP_011511696.1:p.Ser1143Asn
XM_017007736.1:c.3419G>A	XP_016863225.1:p.Ser1140Asn
XM_017007737.1:c.3419G>A	XP_016863226.1:p.Ser1140Asn
XM_017007739.1:c.1979G>A	XP_016863228.1:p.Ser660Asn
XM_024453893.1:c.1979G>A	XP_024309661.1:p.Ser660Asn
XR_001741141.1:n.3509G>A
NM_147127.5:c.3659G>A MANE Select	NP_667338.3:p.Ser1220Asn
NM_001166136.2:c.3419G>A	NP_001159608.1:p.Ser1140Asn