Canonical Allele Identifier: CA438205133

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1145938
• ClinVar RCV Id: RCV001484990
• dbSNP Id: rs1716303868
• MyVariant Identifiers: chr4:g.5630381A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628654A>G , CM000666.2:g.5628654A>G	GRCh38
NC_000004.11:g.5630381A>G , CM000666.1:g.5630381A>G	GRCh37
NC_000004.10:g.5681282A>G	NCBI36
NG_015821.1:g.85895T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1791T>C MANE Select	ENSP00000342144.5:p.Tyr597=
ENST00000310917.6:c.1551T>C	ENSP00000311683.2:p.Tyr517=
ENST00000344408.9:c.1791T>C	ENSP00000342144.5:p.Tyr597=
ENST00000475313.5:c.1551T>C	ENSP00000431981.1:p.Tyr517=
ENST00000509670.1:c.*184T>C	ENSP00000423876.1:n.*184T>C
NM_001166136.1:c.1551T>C	NP_001159608.1:p.Tyr517=
NM_147127.4:c.1791T>C	NP_667338.3:p.Tyr597=
XM_011513392.1:c.1800T>C	XP_011511694.1:p.Tyr600=
XM_011513393.1:c.1800T>C	XP_011511695.1:p.Tyr600=
XM_011513394.1:c.1560T>C	XP_011511696.1:p.Tyr520=
XM_017007736.1:c.1551T>C	XP_016863225.1:p.Tyr517=
XM_017007737.1:c.1551T>C	XP_016863226.1:p.Tyr517=
XM_017007738.1:c.1791T>C	XP_016863227.1:p.Tyr597=
XM_017007739.1:c.111T>C	XP_016863228.1:p.Tyr37=
XM_024453893.1:c.111T>C	XP_024309661.1:p.Tyr37=
XR_001741141.1:n.1856T>C
NM_147127.5:c.1791T>C MANE Select	NP_667338.3:p.Tyr597=
NM_001166136.2:c.1551T>C	NP_001159608.1:p.Tyr517=