Canonical Allele Identifier: CA438203097

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563045G>A , CM000666.2:g.5563045G>A	GRCh38
NC_000004.11:g.5564772G>A , CM000666.1:g.5564772G>A	GRCh37
NC_000004.10:g.5615673G>A	NCBI36
NG_015821.1:g.151504C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3730C>T MANE Select	NP_667338.3:p.Leu1244=
ENST00000344408.10:c.3730C>T MANE Select	ENSP00000342144.5:p.Leu1244=
NM_001166136.1:c.3490C>T	NP_001159608.1:p.Leu1164=
NM_001166136.2:c.3490C>T	NP_001159608.1:p.Leu1164=
NM_147127.4:c.3730C>T	NP_667338.3:p.Leu1244=
ENST00000310917.6:c.3490C>T	ENSP00000311683.2:p.Leu1164=
ENST00000344408.9:c.3730C>T	ENSP00000342144.5:p.Leu1244=
ENST00000475313.5:c.3419+2213C>T	ENSP00000431981.1:n.3419+2213C>T
ENST00000509670.1:c.*2123C>T	ENSP00000423876.1:n.*2123C>T
XM_011513392.1:c.3739C>T	XP_011511694.1:p.Leu1247=
XM_011513393.1:c.3668+2213C>T	XP_011511695.1:n.3668+2213C>T
XM_011513394.1:c.3499C>T	XP_011511696.1:p.Leu1167=
XM_017007736.1:c.3490C>T	XP_016863225.1:p.Leu1164=
XM_017007737.1:c.3490C>T	XP_016863226.1:p.Leu1164=
XM_017007739.1:c.2050C>T	XP_016863228.1:p.Leu684=
XM_024453893.1:c.2050C>T	XP_024309661.1:p.Leu684=
XR_001741141.1:n.3580C>T