Canonical Allele Identifier: CA356147009

Gene: EVC2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563018C>G , CM000666.2:g.5563018C>G	GRCh38
NC_000004.11:g.5564745C>G , CM000666.1:g.5564745C>G	GRCh37
NC_000004.10:g.5615646C>G	NCBI36
NG_015821.1:g.151531G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3757G>C MANE Select	ENSP00000342144.5:p.Ala1253Pro
ENST00000310917.6:c.3517G>C	ENSP00000311683.2:p.Ala1173Pro
ENST00000344408.9:c.3757G>C	ENSP00000342144.5:p.Ala1253Pro
ENST00000475313.5:c.3419+2240G>C	ENSP00000431981.1:n.3419+2240G>C
ENST00000509670.1:c.*2150G>C	ENSP00000423876.1:n.*2150G>C
NM_001166136.1:c.3517G>C	NP_001159608.1:p.Ala1173Pro
NM_147127.4:c.3757G>C	NP_667338.3:p.Ala1253Pro
XM_011513392.1:c.3766G>C	XP_011511694.1:p.Ala1256Pro
XM_011513393.1:c.3668+2240G>C	XP_011511695.1:n.3668+2240G>C
XM_011513394.1:c.3526G>C	XP_011511696.1:p.Ala1176Pro
XM_017007736.1:c.3517G>C	XP_016863225.1:p.Ala1173Pro
XM_017007737.1:c.3517G>C	XP_016863226.1:p.Ala1173Pro
XM_017007739.1:c.2077G>C	XP_016863228.1:p.Ala693Pro
XM_024453893.1:c.2077G>C	XP_024309661.1:p.Ala693Pro
XR_001741141.1:n.3607G>C
NM_147127.5:c.3757G>C MANE Select	NP_667338.3:p.Ala1253Pro
NM_001166136.2:c.3517G>C	NP_001159608.1:p.Ala1173Pro