Canonical Allele Identifier: CA356147836

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5630417C>G (hg19) ; chr4:g.5628690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628690C>G , CM000666.2:g.5628690C>G	GRCh38
NC_000004.11:g.5630417C>G , CM000666.1:g.5630417C>G	GRCh37
NC_000004.10:g.5681318C>G	NCBI36
NG_015821.1:g.85859G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1755G>C MANE Select	ENSP00000342144.5:p.Arg585Ser
ENST00000310917.6:c.1515G>C	ENSP00000311683.2:p.Arg505Ser
ENST00000344408.9:c.1755G>C	ENSP00000342144.5:p.Arg585Ser
ENST00000475313.5:c.1515G>C	ENSP00000431981.1:p.Arg505Ser
ENST00000509670.1:c.*148G>C	ENSP00000423876.1:n.*148G>C
NM_001166136.1:c.1515G>C	NP_001159608.1:p.Arg505Ser
NM_147127.4:c.1755G>C	NP_667338.3:p.Arg585Ser
XM_011513392.1:c.1764G>C	XP_011511694.1:p.Arg588Ser
XM_011513393.1:c.1764G>C	XP_011511695.1:p.Arg588Ser
XM_011513394.1:c.1524G>C	XP_011511696.1:p.Arg508Ser
XM_017007736.1:c.1515G>C	XP_016863225.1:p.Arg505Ser
XM_017007737.1:c.1515G>C	XP_016863226.1:p.Arg505Ser
XM_017007738.1:c.1755G>C	XP_016863227.1:p.Arg585Ser
XM_017007739.1:c.75G>C	XP_016863228.1:p.Arg25Ser
XM_024453893.1:c.75G>C	XP_024309661.1:p.Arg25Ser
XR_001741141.1:n.1820G>C
NM_147127.5:c.1755G>C MANE Select	NP_667338.3:p.Arg585Ser
NM_001166136.2:c.1515G>C	NP_001159608.1:p.Arg505Ser