Canonical Allele Identifier: CA356147981

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5566991T>A (hg19) ; chr4:g.5565264T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5565264T>A , CM000666.2:g.5565264T>A	GRCh38
NC_000004.11:g.5566991T>A , CM000666.1:g.5566991T>A	GRCh37
NC_000004.10:g.5617892T>A	NCBI36
NG_015821.1:g.149285A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.3653A>T MANE Select	ENSP00000342144.5:p.Lys1218Met
ENST00000310917.6:c.3413A>T	ENSP00000311683.2:p.Lys1138Met
ENST00000344408.9:c.3653A>T	ENSP00000342144.5:p.Lys1218Met
ENST00000475313.5:c.3413A>T	ENSP00000431981.1:p.Lys1138Met
ENST00000509670.1:c.*2046A>T	ENSP00000423876.1:n.*2046A>T
NM_001166136.1:c.3413A>T	NP_001159608.1:p.Lys1138Met
NM_147127.4:c.3653A>T	NP_667338.3:p.Lys1218Met
XM_011513392.1:c.3662A>T	XP_011511694.1:p.Lys1221Met
XM_011513393.1:c.3662A>T	XP_011511695.1:p.Lys1221Met
XM_011513394.1:c.3422A>T	XP_011511696.1:p.Lys1141Met
XM_017007736.1:c.3413A>T	XP_016863225.1:p.Lys1138Met
XM_017007737.1:c.3413A>T	XP_016863226.1:p.Lys1138Met
XM_017007739.1:c.1973A>T	XP_016863228.1:p.Lys658Met
XM_024453893.1:c.1973A>T	XP_024309661.1:p.Lys658Met
XR_001741141.1:n.3503A>T
NM_147127.5:c.3653A>T MANE Select	NP_667338.3:p.Lys1218Met
NM_001166136.2:c.3413A>T	NP_001159608.1:p.Lys1138Met