Canonical Allele Identifier: CA356143589

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5620368A>C (hg19) ; chr4:g.5618641A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618641A>C , CM000666.2:g.5618641A>C	GRCh38
NC_000004.11:g.5620368A>C , CM000666.1:g.5620368A>C	GRCh37
NC_000004.10:g.5671269A>C	NCBI36
NG_015821.1:g.95908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2543T>G MANE Select	ENSP00000342144.5:p.Leu848Arg
ENST00000310917.6:c.2303T>G	ENSP00000311683.2:p.Leu768Arg
ENST00000344408.9:c.2543T>G	ENSP00000342144.5:p.Leu848Arg
ENST00000475313.5:c.2303T>G	ENSP00000431981.1:p.Leu768Arg
ENST00000509670.1:c.*936T>G	ENSP00000423876.1:n.*936T>G
NM_001166136.1:c.2303T>G	NP_001159608.1:p.Leu768Arg
NM_147127.4:c.2543T>G	NP_667338.3:p.Leu848Arg
XM_011513392.1:c.2552T>G	XP_011511694.1:p.Leu851Arg
XM_011513393.1:c.2552T>G	XP_011511695.1:p.Leu851Arg
XM_011513394.1:c.2312T>G	XP_011511696.1:p.Leu771Arg
XM_017007736.1:c.2303T>G	XP_016863225.1:p.Leu768Arg
XM_017007737.1:c.2303T>G	XP_016863226.1:p.Leu768Arg
XM_017007738.1:c.2543T>G	XP_016863227.1:p.Leu848Arg
XM_017007739.1:c.863T>G	XP_016863228.1:p.Leu288Arg
XM_024453893.1:c.863T>G	XP_024309661.1:p.Leu288Arg
XR_001741141.1:n.2608T>G
NM_147127.5:c.2543T>G MANE Select	NP_667338.3:p.Leu848Arg
NM_001166136.2:c.2303T>G	NP_001159608.1:p.Leu768Arg