Canonical Allele Identifier: CA438203873

Gene: EVC2

Linked Data

• dbSNP Id: rs1422054577
• gnomAD v2: 4-5620382-C-A
• gnomAD v4: 4-5618655-C-A
• MyVariant Identifiers: chr4:g.5620382C>A (hg19) ; chr4:g.5618655C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618655C>A , CM000666.2:g.5618655C>A	GRCh38
NC_000004.11:g.5620382C>A , CM000666.1:g.5620382C>A	GRCh37
NC_000004.10:g.5671283C>A	NCBI36
NG_015821.1:g.95894G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2529G>T MANE Select	ENSP00000342144.5:p.Leu843=
ENST00000310917.6:c.2289G>T	ENSP00000311683.2:p.Leu763=
ENST00000344408.9:c.2529G>T	ENSP00000342144.5:p.Leu843=
ENST00000475313.5:c.2289G>T	ENSP00000431981.1:p.Leu763=
ENST00000509670.1:c.*922G>T	ENSP00000423876.1:n.*922G>T
NM_001166136.1:c.2289G>T	NP_001159608.1:p.Leu763=
NM_147127.4:c.2529G>T	NP_667338.3:p.Leu843=
XM_011513392.1:c.2538G>T	XP_011511694.1:p.Leu846=
XM_011513393.1:c.2538G>T	XP_011511695.1:p.Leu846=
XM_011513394.1:c.2298G>T	XP_011511696.1:p.Leu766=
XM_017007736.1:c.2289G>T	XP_016863225.1:p.Leu763=
XM_017007737.1:c.2289G>T	XP_016863226.1:p.Leu763=
XM_017007738.1:c.2529G>T	XP_016863227.1:p.Leu843=
XM_017007739.1:c.849G>T	XP_016863228.1:p.Leu283=
XM_024453893.1:c.849G>T	XP_024309661.1:p.Leu283=
XR_001741141.1:n.2594G>T
NM_147127.5:c.2529G>T MANE Select	NP_667338.3:p.Leu843=
NM_001166136.2:c.2289G>T	NP_001159608.1:p.Leu763=