Canonical Allele Identifier: CA356146902

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5685441G>A , CM000666.2:g.5685441G>A	GRCh38
NC_000004.11:g.5687168G>A , CM000666.1:g.5687168G>A	GRCh37
NC_000004.10:g.5738069G>A	NCBI36
NG_015821.1:g.29108C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.745C>T MANE Select	NP_667338.3:p.Gln249Ter
ENST00000344408.10:c.745C>T MANE Select	ENSP00000342144.5:p.Gln249Ter
NM_001166136.1:c.505C>T	NP_001159608.1:p.Gln169Ter
NM_001166136.2:c.505C>T	NP_001159608.1:p.Gln169Ter
NM_147127.4:c.745C>T	NP_667338.3:p.Gln249Ter
ENST00000310917.6:c.505C>T	ENSP00000311683.2:p.Gln169Ter
ENST00000344408.9:c.745C>T	ENSP00000342144.5:p.Gln249Ter
ENST00000475313.5:c.505C>T	ENSP00000431981.1:p.Gln169Ter
ENST00000509670.1:c.505C>T	ENSP00000423876.1:p.Gln169Ter
XM_011513392.1:c.745C>T	XP_011511694.1:p.Gln249Ter
XM_011513393.1:c.745C>T	XP_011511695.1:p.Gln249Ter
XM_011513394.1:c.505C>T	XP_011511696.1:p.Gln169Ter
XM_017007736.1:c.505C>T	XP_016863225.1:p.Gln169Ter
XM_017007737.1:c.505C>T	XP_016863226.1:p.Gln169Ter
XM_017007738.1:c.745C>T	XP_016863227.1:p.Gln249Ter
XM_017007739.1:c.-928C>T	XP_016863228.1:n.-928C>T
XM_024453893.1:c.-1032C>T	XP_024309661.1:n.-1032C>T
XR_001741141.1:n.810C>T