Canonical Allele Identifier: CA2740091123

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2923935
• ClinVar RCV Id: RCV003783493

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628543C>T , CM000666.2:g.5628543C>T	GRCh38
NC_000004.11:g.5630270C>T , CM000666.1:g.5630270C>T	GRCh37
NC_000004.10:g.5681171C>T	NCBI36
NG_015821.1:g.86006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1886+16G>A MANE Select	ENSP00000342144.5:n.1886+16G>A
ENST00000310917.6:c.1646+16G>A	ENSP00000311683.2:n.1646+16G>A
ENST00000344408.9:c.1886+16G>A	ENSP00000342144.5:n.1886+16G>A
ENST00000475313.5:c.1646+16G>A	ENSP00000431981.1:n.1646+16G>A
ENST00000509670.1:c.*279+16G>A	ENSP00000423876.1:n.*279+16G>A
NM_001166136.1:c.1646+16G>A	NP_001159608.1:n.1646+16G>A
NM_147127.4:c.1886+16G>A	NP_667338.3:n.1886+16G>A
XM_011513392.1:c.1895+16G>A	XP_011511694.1:n.1895+16G>A
XM_011513393.1:c.1895+16G>A	XP_011511695.1:n.1895+16G>A
XM_011513394.1:c.1655+16G>A	XP_011511696.1:n.1655+16G>A
XM_017007736.1:c.1646+16G>A	XP_016863225.1:n.1646+16G>A
XM_017007737.1:c.1646+16G>A	XP_016863226.1:n.1646+16G>A
XM_017007738.1:c.1886+16G>A	XP_016863227.1:n.1886+16G>A
XM_017007739.1:c.206+16G>A	XP_016863228.1:n.206+16G>A
XM_024453893.1:c.206+16G>A	XP_024309661.1:n.206+16G>A
XR_001741141.1:n.1951+16G>A
NM_147127.5:c.1886+16G>A MANE Select	NP_667338.3:n.1886+16G>A
NM_001166136.2:c.1646+16G>A	NP_001159608.1:n.1646+16G>A