Canonical Allele Identifier: CA2834402

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5576259G>A , CM000666.2:g.5576259G>A	GRCh38
NC_000004.11:g.5577986G>A , CM000666.1:g.5577986G>A	GRCh37
NC_000004.10:g.5628887G>A	NCBI36
NG_015821.1:g.138290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3253C>T MANE Select	ENSP00000342144.5:p.Leu1085=
ENST00000310917.6:c.3013C>T	ENSP00000311683.2:p.Leu1005=
ENST00000344408.9:c.3253C>T	ENSP00000342144.5:p.Leu1085=
ENST00000475313.5:c.3013C>T	ENSP00000431981.1:p.Leu1005=
ENST00000509670.1:c.*1646C>T	ENSP00000423876.1:n.*1646C>T
NM_001166136.1:c.3013C>T	NP_001159608.1:p.Leu1005=
NM_147127.4:c.3253C>T	NP_667338.3:p.Leu1085=
XM_011513392.1:c.3262C>T	XP_011511694.1:p.Leu1088=
XM_011513393.1:c.3262C>T	XP_011511695.1:p.Leu1088=
XM_011513394.1:c.3022C>T	XP_011511696.1:p.Leu1008=
XM_017007736.1:c.3013C>T	XP_016863225.1:p.Leu1005=
XM_017007737.1:c.3013C>T	XP_016863226.1:p.Leu1005=
XM_017007738.1:c.3253C>T	XP_016863227.1:p.Leu1085=
XM_017007739.1:c.1573C>T	XP_016863228.1:p.Leu525=
XM_024453893.1:c.1573C>T	XP_024309661.1:p.Leu525=
XR_001741141.1:n.3123-1487C>T
NM_147127.5:c.3253C>T MANE Select	NP_667338.3:p.Leu1085=
NM_001166136.2:c.3013C>T	NP_001159608.1:p.Leu1005=