Canonical Allele Identifier: CA356143250

Gene: EVC2

Linked Data

• MyVariant Identifiers: chr4:g.5620275T>A (hg19) ; chr4:g.5618548T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618548T>A , CM000666.2:g.5618548T>A	GRCh38
NC_000004.11:g.5620275T>A , CM000666.1:g.5620275T>A	GRCh37
NC_000004.10:g.5671176T>A	NCBI36
NG_015821.1:g.96001A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.2636A>T MANE Select	ENSP00000342144.5:p.Gln879Leu
ENST00000310917.6:c.2396A>T	ENSP00000311683.2:p.Gln799Leu
ENST00000344408.9:c.2636A>T	ENSP00000342144.5:p.Gln879Leu
ENST00000475313.5:c.2396A>T	ENSP00000431981.1:p.Gln799Leu
ENST00000509670.1:c.*1029A>T	ENSP00000423876.1:n.*1029A>T
NM_001166136.1:c.2396A>T	NP_001159608.1:p.Gln799Leu
NM_147127.4:c.2636A>T	NP_667338.3:p.Gln879Leu
XM_011513392.1:c.2645A>T	XP_011511694.1:p.Gln882Leu
XM_011513393.1:c.2645A>T	XP_011511695.1:p.Gln882Leu
XM_011513394.1:c.2405A>T	XP_011511696.1:p.Gln802Leu
XM_017007736.1:c.2396A>T	XP_016863225.1:p.Gln799Leu
XM_017007737.1:c.2396A>T	XP_016863226.1:p.Gln799Leu
XM_017007738.1:c.2636A>T	XP_016863227.1:p.Gln879Leu
XM_017007739.1:c.956A>T	XP_016863228.1:p.Gln319Leu
XM_024453893.1:c.956A>T	XP_024309661.1:p.Gln319Leu
XR_001741141.1:n.2701A>T
NM_147127.5:c.2636A>T MANE Select	NP_667338.3:p.Gln879Leu
NM_001166136.2:c.2396A>T	NP_001159608.1:p.Gln799Leu