Canonical Allele Identifier: CA438203071

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563013A>C , CM000666.2:g.5563013A>C	GRCh38
NC_000004.11:g.5564740A>C , CM000666.1:g.5564740A>C	GRCh37
NC_000004.10:g.5615641A>C	NCBI36
NG_015821.1:g.151536T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3762T>G MANE Select	NP_667338.3:p.Pro1254=
ENST00000344408.10:c.3762T>G MANE Select	ENSP00000342144.5:p.Pro1254=
NM_001166136.1:c.3522T>G	NP_001159608.1:p.Pro1174=
NM_001166136.2:c.3522T>G	NP_001159608.1:p.Pro1174=
NM_147127.4:c.3762T>G	NP_667338.3:p.Pro1254=
ENST00000310917.6:c.3522T>G	ENSP00000311683.2:p.Pro1174=
ENST00000344408.9:c.3762T>G	ENSP00000342144.5:p.Pro1254=
ENST00000475313.5:c.3419+2245T>G	ENSP00000431981.1:n.3419+2245T>G
ENST00000509670.1:c.*2155T>G	ENSP00000423876.1:n.*2155T>G
XM_011513392.1:c.3771T>G	XP_011511694.1:p.Pro1257=
XM_011513393.1:c.3668+2245T>G	XP_011511695.1:n.3668+2245T>G
XM_011513394.1:c.3531T>G	XP_011511696.1:p.Pro1177=
XM_017007736.1:c.3522T>G	XP_016863225.1:p.Pro1174=
XM_017007737.1:c.3522T>G	XP_016863226.1:p.Pro1174=
XM_017007739.1:c.2082T>G	XP_016863228.1:p.Pro694=
XM_024453893.1:c.2082T>G	XP_024309661.1:p.Pro694=
XR_001741141.1:n.3612T>G