Canonical Allele Identifier: CA2835080

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5640600T>C , CM000666.2:g.5640600T>C	GRCh38
NC_000004.11:g.5642327T>C , CM000666.1:g.5642327T>C	GRCh37
NC_000004.10:g.5693228T>C	NCBI36
NG_015821.1:g.73949A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1384A>G MANE Select	ENSP00000342144.5:p.Thr462Ala
ENST00000310917.6:c.1144A>G	ENSP00000311683.2:p.Thr382Ala
ENST00000344408.9:c.1384A>G	ENSP00000342144.5:p.Thr462Ala
ENST00000475313.5:c.1144A>G	ENSP00000431981.1:p.Thr382Ala
ENST00000509670.1:c.1144A>G	ENSP00000423876.1:p.Thr382Ala
NM_001166136.1:c.1144A>G	NP_001159608.1:p.Thr382Ala
NM_147127.4:c.1384A>G	NP_667338.3:p.Thr462Ala
XM_011513392.1:c.1384A>G	XP_011511694.1:p.Thr462Ala
XM_011513393.1:c.1384A>G	XP_011511695.1:p.Thr462Ala
XM_011513394.1:c.1144A>G	XP_011511696.1:p.Thr382Ala
XM_017007736.1:c.1144A>G	XP_016863225.1:p.Thr382Ala
XM_017007737.1:c.1144A>G	XP_016863226.1:p.Thr382Ala
XM_017007738.1:c.1384A>G	XP_016863227.1:p.Thr462Ala
XM_017007739.1:c.-289A>G	XP_016863228.1:n.-289A>G
XM_024453893.1:c.-393A>G	XP_024309661.1:n.-393A>G
XR_001741141.1:n.1449A>G
NM_147127.5:c.1384A>G MANE Select	NP_667338.3:p.Thr462Ala
NM_001166136.2:c.1144A>G	NP_001159608.1:p.Thr382Ala