Canonical Allele Identifier: CA356147713

Gene: EVC2

Linked Data

• dbSNP Id: rs1716304250
• MyVariant Identifiers: chr4:g.5630383A>G (hg19) ; chr4:g.5628656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628656A>G , CM000666.2:g.5628656A>G	GRCh38
NC_000004.11:g.5630383A>G , CM000666.1:g.5630383A>G	GRCh37
NC_000004.10:g.5681284A>G	NCBI36
NG_015821.1:g.85893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1789T>C MANE Select	ENSP00000342144.5:p.Tyr597His
ENST00000310917.6:c.1549T>C	ENSP00000311683.2:p.Tyr517His
ENST00000344408.9:c.1789T>C	ENSP00000342144.5:p.Tyr597His
ENST00000475313.5:c.1549T>C	ENSP00000431981.1:p.Tyr517His
ENST00000509670.1:c.*182T>C	ENSP00000423876.1:n.*182T>C
NM_001166136.1:c.1549T>C	NP_001159608.1:p.Tyr517His
NM_147127.4:c.1789T>C	NP_667338.3:p.Tyr597His
XM_011513392.1:c.1798T>C	XP_011511694.1:p.Tyr600His
XM_011513393.1:c.1798T>C	XP_011511695.1:p.Tyr600His
XM_011513394.1:c.1558T>C	XP_011511696.1:p.Tyr520His
XM_017007736.1:c.1549T>C	XP_016863225.1:p.Tyr517His
XM_017007737.1:c.1549T>C	XP_016863226.1:p.Tyr517His
XM_017007738.1:c.1789T>C	XP_016863227.1:p.Tyr597His
XM_017007739.1:c.109T>C	XP_016863228.1:p.Tyr37His
XM_024453893.1:c.109T>C	XP_024309661.1:p.Tyr37His
XR_001741141.1:n.1854T>C
NM_147127.5:c.1789T>C MANE Select	NP_667338.3:p.Tyr597His
NM_001166136.2:c.1549T>C	NP_001159608.1:p.Tyr517His