Canonical Allele Identifier: CA356147706

Gene: EVC2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_147127.5:c.1791T>G MANE Select	NP_667338.3:p.Tyr597Ter
ENST00000344408.10:c.1791T>G MANE Select	ENSP00000342144.5:p.Tyr597Ter
NM_001166136.1:c.1551T>G	NP_001159608.1:p.Tyr517Ter
NM_001166136.2:c.1551T>G	NP_001159608.1:p.Tyr517Ter
NM_147127.4:c.1791T>G	NP_667338.3:p.Tyr597Ter
ENST00000310917.6:c.1551T>G	ENSP00000311683.2:p.Tyr517Ter
ENST00000344408.9:c.1791T>G	ENSP00000342144.5:p.Tyr597Ter
ENST00000475313.5:c.1551T>G	ENSP00000431981.1:p.Tyr517Ter
ENST00000509670.1:c.*184T>G	ENSP00000423876.1:n.*184T>G
XM_011513392.1:c.1800T>G	XP_011511694.1:p.Tyr600Ter
XM_011513393.1:c.1800T>G	XP_011511695.1:p.Tyr600Ter
XM_011513394.1:c.1560T>G	XP_011511696.1:p.Tyr520Ter
XM_017007736.1:c.1551T>G	XP_016863225.1:p.Tyr517Ter
XM_017007737.1:c.1551T>G	XP_016863226.1:p.Tyr517Ter
XM_017007738.1:c.1791T>G	XP_016863227.1:p.Tyr597Ter
XM_017007739.1:c.111T>G	XP_016863228.1:p.Tyr37Ter
XM_024453893.1:c.111T>G	XP_024309661.1:p.Tyr37Ter
XR_001741141.1:n.1856T>G