Canonical Allele Identifier: CA2578032653

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5565201C>T , CM000666.2:g.5565201C>T	GRCh38
NC_000004.11:g.5566928C>T , CM000666.1:g.5566928C>T	GRCh37
NC_000004.10:g.5617829C>T	NCBI36
NG_015821.1:g.149348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3659+57G>A MANE Select	ENSP00000342144.5:n.3659+57G>A
ENST00000310917.6:c.3419+57G>A	ENSP00000311683.2:n.3419+57G>A
ENST00000344408.9:c.3659+57G>A	ENSP00000342144.5:n.3659+57G>A
ENST00000475313.5:c.3419+57G>A	ENSP00000431981.1:n.3419+57G>A
ENST00000509670.1:c.*2052+57G>A	ENSP00000423876.1:n.*2052+57G>A
NM_001166136.1:c.3419+57G>A	NP_001159608.1:n.3419+57G>A
NM_147127.4:c.3659+57G>A	NP_667338.3:n.3659+57G>A
XM_011513392.1:c.3668+57G>A	XP_011511694.1:n.3668+57G>A
XM_011513393.1:c.3668+57G>A	XP_011511695.1:n.3668+57G>A
XM_011513394.1:c.3428+57G>A	XP_011511696.1:n.3428+57G>A
XM_017007736.1:c.3419+57G>A	XP_016863225.1:n.3419+57G>A
XM_017007737.1:c.3419+57G>A	XP_016863226.1:n.3419+57G>A
XM_017007739.1:c.1979+57G>A	XP_016863228.1:n.1979+57G>A
XM_024453893.1:c.1979+57G>A	XP_024309661.1:n.1979+57G>A
XR_001741141.1:n.3509+57G>A
NM_147127.5:c.3659+57G>A MANE Select	NP_667338.3:n.3659+57G>A
NM_001166136.2:c.3419+57G>A	NP_001159608.1:n.3419+57G>A