Canonical Allele Identifier: CA438205023

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5630336A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628609A>G , CM000666.2:g.5628609A>G	GRCh38
NC_000004.11:g.5630336A>G , CM000666.1:g.5630336A>G	GRCh37
NC_000004.10:g.5681237A>G	NCBI36
NG_015821.1:g.85940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1836T>C MANE Select	ENSP00000342144.5:p.Leu612=
ENST00000310917.6:c.1596T>C	ENSP00000311683.2:p.Leu532=
ENST00000344408.9:c.1836T>C	ENSP00000342144.5:p.Leu612=
ENST00000475313.5:c.1596T>C	ENSP00000431981.1:p.Leu532=
ENST00000509670.1:c.*229T>C	ENSP00000423876.1:n.*229T>C
NM_001166136.1:c.1596T>C	NP_001159608.1:p.Leu532=
NM_147127.4:c.1836T>C	NP_667338.3:p.Leu612=
XM_011513392.1:c.1845T>C	XP_011511694.1:p.Leu615=
XM_011513393.1:c.1845T>C	XP_011511695.1:p.Leu615=
XM_011513394.1:c.1605T>C	XP_011511696.1:p.Leu535=
XM_017007736.1:c.1596T>C	XP_016863225.1:p.Leu532=
XM_017007737.1:c.1596T>C	XP_016863226.1:p.Leu532=
XM_017007738.1:c.1836T>C	XP_016863227.1:p.Leu612=
XM_017007739.1:c.156T>C	XP_016863228.1:p.Leu52=
XM_024453893.1:c.156T>C	XP_024309661.1:p.Leu52=
XR_001741141.1:n.1901T>C
NM_147127.5:c.1836T>C MANE Select	NP_667338.3:p.Leu612=
NM_001166136.2:c.1596T>C	NP_001159608.1:p.Leu532=