Canonical Allele Identifier: CA1435456914
Community Standard Title: NM_147127.5(EVC2):c.688A= (p.Ser230=)
Gene: EVC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.5689175T= , CM000666.2:g.5689175T= GRCh38
NC_000004.11:g.5690902T= , CM000666.1:g.5690902T= GRCh37
NC_000004.10:g.5741803T= NCBI36
NG_015821.1:g.25374A=

Transcript Alleles

HGVS Amino-acid Change
NM_147127.5:c.688A= MANE Select NP_667338.3:p.Ser230=
ENST00000344408.10:c.688A= MANE Select ENSP00000342144.5:p.Ser230=
NM_001166136.1:c.448A= NP_001159608.1:p.Ser150=
NM_001166136.2:c.448A= NP_001159608.1:p.Ser150=
NM_147127.4:c.688A= NP_667338.3:p.Ser230=
ENST00000310917.6:c.448A= ENSP00000311683.2:p.Ser150=
ENST00000344408.9:c.688A= ENSP00000342144.5:p.Ser230=
ENST00000475313.5:c.448A= ENSP00000431981.1:p.Ser150=
ENST00000509670.1:c.448A= ENSP00000423876.1:p.Ser150=
XM_011513392.1:c.688A= XP_011511694.1:p.Ser230=
XM_011513393.1:c.688A= XP_011511695.1:p.Ser230=
XM_011513394.1:c.448A= XP_011511696.1:p.Ser150=
XM_017007736.1:c.448A= XP_016863225.1:p.Ser150=
XM_017007737.1:c.448A= XP_016863226.1:p.Ser150=
XM_017007738.1:c.688A= XP_016863227.1:p.Ser230=
XM_017007739.1:c.-985A= XP_016863228.1:n.-985A=
XM_024453893.1:c.-1089A= XP_024309661.1:n.-1089A=
XR_001741141.1:n.753A=