Canonical Allele Identifier: CA2669800441

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618434-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618434G>A , CM000666.2:g.5618434G>A	GRCh38
NC_000004.11:g.5620161G>A , CM000666.1:g.5620161G>A	GRCh37
NC_000004.10:g.5671062G>A	NCBI36
NG_015821.1:g.96115C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.2706+44C>T MANE Select	ENSP00000342144.5:n.2706+44C>T
ENST00000310917.6:c.2466+44C>T	ENSP00000311683.2:n.2466+44C>T
ENST00000344408.9:c.2706+44C>T	ENSP00000342144.5:n.2706+44C>T
ENST00000475313.5:c.2466+44C>T	ENSP00000431981.1:n.2466+44C>T
ENST00000509670.1:c.*1099+44C>T	ENSP00000423876.1:n.*1099+44C>T
NM_001166136.1:c.2466+44C>T	NP_001159608.1:n.2466+44C>T
NM_147127.4:c.2706+44C>T	NP_667338.3:n.2706+44C>T
XM_011513392.1:c.2715+44C>T	XP_011511694.1:n.2715+44C>T
XM_011513393.1:c.2715+44C>T	XP_011511695.1:n.2715+44C>T
XM_011513394.1:c.2475+44C>T	XP_011511696.1:n.2475+44C>T
XM_017007736.1:c.2466+44C>T	XP_016863225.1:n.2466+44C>T
XM_017007737.1:c.2466+44C>T	XP_016863226.1:n.2466+44C>T
XM_017007738.1:c.2706+44C>T	XP_016863227.1:n.2706+44C>T
XM_017007739.1:c.1026+44C>T	XP_016863228.1:n.1026+44C>T
XM_024453893.1:c.1026+44C>T	XP_024309661.1:n.1026+44C>T
XR_001741141.1:n.2771+44C>T
NM_147127.5:c.2706+44C>T MANE Select	NP_667338.3:n.2706+44C>T
NM_001166136.2:c.2466+44C>T	NP_001159608.1:n.2466+44C>T