Canonical Allele Identifier: CA438205176

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1118765
• ClinVar RCV Id: RCV001448017
• dbSNP Id: rs2108847209
• MyVariant Identifiers: chr4:g.5630405A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628678A>G , CM000666.2:g.5628678A>G	GRCh38
NC_000004.11:g.5630405A>G , CM000666.1:g.5630405A>G	GRCh37
NC_000004.10:g.5681306A>G	NCBI36
NG_015821.1:g.85871T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1767T>C MANE Select	ENSP00000342144.5:p.Ser589=
ENST00000310917.6:c.1527T>C	ENSP00000311683.2:p.Ser509=
ENST00000344408.9:c.1767T>C	ENSP00000342144.5:p.Ser589=
ENST00000475313.5:c.1527T>C	ENSP00000431981.1:p.Ser509=
ENST00000509670.1:c.*160T>C	ENSP00000423876.1:n.*160T>C
NM_001166136.1:c.1527T>C	NP_001159608.1:p.Ser509=
NM_147127.4:c.1767T>C	NP_667338.3:p.Ser589=
XM_011513392.1:c.1776T>C	XP_011511694.1:p.Ser592=
XM_011513393.1:c.1776T>C	XP_011511695.1:p.Ser592=
XM_011513394.1:c.1536T>C	XP_011511696.1:p.Ser512=
XM_017007736.1:c.1527T>C	XP_016863225.1:p.Ser509=
XM_017007737.1:c.1527T>C	XP_016863226.1:p.Ser509=
XM_017007738.1:c.1767T>C	XP_016863227.1:p.Ser589=
XM_017007739.1:c.87T>C	XP_016863228.1:p.Ser29=
XM_024453893.1:c.87T>C	XP_024309661.1:p.Ser29=
XR_001741141.1:n.1832T>C
NM_147127.5:c.1767T>C MANE Select	NP_667338.3:p.Ser589=
NM_001166136.2:c.1527T>C	NP_001159608.1:p.Ser509=