Canonical Allele Identifier: CA438205120

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1106642
• ClinVar RCV Id: RCV001431466
• dbSNP Id: rs2108847158
• MyVariant Identifiers: chr4:g.5630375G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628648G>A , CM000666.2:g.5628648G>A	GRCh38
NC_000004.11:g.5630375G>A , CM000666.1:g.5630375G>A	GRCh37
NC_000004.10:g.5681276G>A	NCBI36
NG_015821.1:g.85901C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1797C>T MANE Select	ENSP00000342144.5:p.Val599=
ENST00000310917.6:c.1557C>T	ENSP00000311683.2:p.Val519=
ENST00000344408.9:c.1797C>T	ENSP00000342144.5:p.Val599=
ENST00000475313.5:c.1557C>T	ENSP00000431981.1:p.Val519=
ENST00000509670.1:c.*190C>T	ENSP00000423876.1:n.*190C>T
NM_001166136.1:c.1557C>T	NP_001159608.1:p.Val519=
NM_147127.4:c.1797C>T	NP_667338.3:p.Val599=
XM_011513392.1:c.1806C>T	XP_011511694.1:p.Val602=
XM_011513393.1:c.1806C>T	XP_011511695.1:p.Val602=
XM_011513394.1:c.1566C>T	XP_011511696.1:p.Val522=
XM_017007736.1:c.1557C>T	XP_016863225.1:p.Val519=
XM_017007737.1:c.1557C>T	XP_016863226.1:p.Val519=
XM_017007738.1:c.1797C>T	XP_016863227.1:p.Val599=
XM_017007739.1:c.117C>T	XP_016863228.1:p.Val39=
XM_024453893.1:c.117C>T	XP_024309661.1:p.Val39=
XR_001741141.1:n.1862C>T
NM_147127.5:c.1797C>T MANE Select	NP_667338.3:p.Val599=
NM_001166136.2:c.1557C>T	NP_001159608.1:p.Val519=