Canonical Allele Identifier: CA200770

Gene: EVC2

Linked Data

• ClinVar Variation Id: 193762
• ClinVar RCV Id: RCV000173922 ; RCV000680149 ; RCV000755525 ; RCV001572957 ; RCV003965251
• dbSNP Id: rs141287105
• ExAC: 4:5642347 G / C
• gnomAD v2: 4-5642347-G-C
• gnomAD v3: 4-5640620-G-C
• gnomAD v4: 4-5640620-G-C
• MyVariant Identifiers: chr4:g.5642347G>C (hg19) ; chr4:g.5640620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5640620G>C , CM000666.2:g.5640620G>C	GRCh38
NC_000004.11:g.5642347G>C , CM000666.1:g.5642347G>C	GRCh37
NC_000004.10:g.5693248G>C	NCBI36
NG_015821.1:g.73929C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1364C>G MANE Select	ENSP00000342144.5:p.Thr455Arg
ENST00000310917.6:c.1124C>G	ENSP00000311683.2:p.Thr375Arg
ENST00000344408.9:c.1364C>G	ENSP00000342144.5:p.Thr455Arg
ENST00000475313.5:c.1124C>G	ENSP00000431981.1:p.Thr375Arg
ENST00000509670.1:c.1124C>G	ENSP00000423876.1:p.Thr375Arg
NM_001166136.1:c.1124C>G	NP_001159608.1:p.Thr375Arg
NM_147127.4:c.1364C>G	NP_667338.3:p.Thr455Arg
XM_011513392.1:c.1364C>G	XP_011511694.1:p.Thr455Arg
XM_011513393.1:c.1364C>G	XP_011511695.1:p.Thr455Arg
XM_011513394.1:c.1124C>G	XP_011511696.1:p.Thr375Arg
XM_017007736.1:c.1124C>G	XP_016863225.1:p.Thr375Arg
XM_017007737.1:c.1124C>G	XP_016863226.1:p.Thr375Arg
XM_017007738.1:c.1364C>G	XP_016863227.1:p.Thr455Arg
XM_017007739.1:c.-309C>G	XP_016863228.1:n.-309C>G
XM_024453893.1:c.-413C>G	XP_024309661.1:n.-413C>G
XR_001741141.1:n.1429C>G
NM_147127.5:c.1364C>G MANE Select	NP_667338.3:p.Thr455Arg
NM_001166136.2:c.1124C>G	NP_001159608.1:p.Thr375Arg