Canonical Allele Identifier: CA356147452

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563117T>C , CM000666.2:g.5563117T>C	GRCh38
NC_000004.11:g.5564844T>C , CM000666.1:g.5564844T>C	GRCh37
NC_000004.10:g.5615745T>C	NCBI36
NG_015821.1:g.151432A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.3660-2A>G MANE Select	NP_667338.3:n.3660-2A>G
ENST00000344408.10:c.3660-2A>G MANE Select	ENSP00000342144.5:n.3660-2A>G
NM_001166136.1:c.3420-2A>G	NP_001159608.1:n.3420-2A>G
NM_001166136.2:c.3420-2A>G	NP_001159608.1:n.3420-2A>G
NM_147127.4:c.3660-2A>G	NP_667338.3:n.3660-2A>G
ENST00000310917.6:c.3420-2A>G	ENSP00000311683.2:n.3420-2A>G
ENST00000344408.9:c.3660-2A>G	ENSP00000342144.5:n.3660-2A>G
ENST00000475313.5:c.3419+2141A>G	ENSP00000431981.1:n.3419+2141A>G
ENST00000509670.1:c.*2053-2A>G	ENSP00000423876.1:n.*2053-2A>G
XM_011513392.1:c.3669-2A>G	XP_011511694.1:n.3669-2A>G
XM_011513393.1:c.3668+2141A>G	XP_011511695.1:n.3668+2141A>G
XM_011513394.1:c.3429-2A>G	XP_011511696.1:n.3429-2A>G
XM_017007736.1:c.3420-2A>G	XP_016863225.1:n.3420-2A>G
XM_017007737.1:c.3420-2A>G	XP_016863226.1:n.3420-2A>G
XM_017007739.1:c.1980-2A>G	XP_016863228.1:n.1980-2A>G
XM_024453893.1:c.1980-2A>G	XP_024309661.1:n.1980-2A>G
XR_001741141.1:n.3510-2A>G