Canonical Allele Identifier: CA356147840

Gene: EVC2

Linked Data

• gnomAD v4: 4-5628691-C-G
• MyVariant Identifiers: chr4:g.5630418C>G (hg19) ; chr4:g.5628691C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628691C>G , CM000666.2:g.5628691C>G	GRCh38
NC_000004.11:g.5630418C>G , CM000666.1:g.5630418C>G	GRCh37
NC_000004.10:g.5681319C>G	NCBI36
NG_015821.1:g.85858G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1754G>C MANE Select	ENSP00000342144.5:p.Arg585Thr
ENST00000310917.6:c.1514G>C	ENSP00000311683.2:p.Arg505Thr
ENST00000344408.9:c.1754G>C	ENSP00000342144.5:p.Arg585Thr
ENST00000475313.5:c.1514G>C	ENSP00000431981.1:p.Arg505Thr
ENST00000509670.1:c.*147G>C	ENSP00000423876.1:n.*147G>C
NM_001166136.1:c.1514G>C	NP_001159608.1:p.Arg505Thr
NM_147127.4:c.1754G>C	NP_667338.3:p.Arg585Thr
XM_011513392.1:c.1763G>C	XP_011511694.1:p.Arg588Thr
XM_011513393.1:c.1763G>C	XP_011511695.1:p.Arg588Thr
XM_011513394.1:c.1523G>C	XP_011511696.1:p.Arg508Thr
XM_017007736.1:c.1514G>C	XP_016863225.1:p.Arg505Thr
XM_017007737.1:c.1514G>C	XP_016863226.1:p.Arg505Thr
XM_017007738.1:c.1754G>C	XP_016863227.1:p.Arg585Thr
XM_017007739.1:c.74G>C	XP_016863228.1:p.Arg25Thr
XM_024453893.1:c.74G>C	XP_024309661.1:p.Arg25Thr
XR_001741141.1:n.1819G>C
NM_147127.5:c.1754G>C MANE Select	NP_667338.3:p.Arg585Thr
NM_001166136.2:c.1514G>C	NP_001159608.1:p.Arg505Thr