Canonical Allele Identifier: CA2573138240

Gene: EVC2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5584640_5584641delinsCA , CM000666.2:g.5584640_5584641delinsCA	GRCh38
NC_000004.11:g.5586367_5586368delinsCA , CM000666.1:g.5586367_5586368delinsCA	GRCh37
NC_000004.10:g.5637268_5637269delinsCA	NCBI36
NG_015821.1:g.129908_129909delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3039_3040delinsTG MANE Select	ENSP00000342144.5:p.Leu1014Val
ENST00000310917.6:c.2799_2800delinsTG	ENSP00000311683.2:p.Leu934Val
ENST00000344408.9:c.3039_3040delinsTG	ENSP00000342144.5:p.Leu1014Val
ENST00000475313.5:c.2799_2800delinsTG	ENSP00000431981.1:p.Leu934Val
ENST00000509670.1:c.*1432_*1433delinsTG	ENSP00000423876.1:n.*1432_*1433delinsTG
NM_001166136.1:c.2799_2800delinsTG	NP_001159608.1:p.Leu934Val
NM_147127.4:c.3039_3040delinsTG	NP_667338.3:p.Leu1014Val
XM_011513392.1:c.3048_3049delinsTG	XP_011511694.1:p.Leu1017Val
XM_011513393.1:c.3048_3049delinsTG	XP_011511695.1:p.Leu1017Val
XM_011513394.1:c.2808_2809delinsTG	XP_011511696.1:p.Leu937Val
XM_017007736.1:c.2799_2800delinsTG	XP_016863225.1:p.Leu934Val
XM_017007737.1:c.2799_2800delinsTG	XP_016863226.1:p.Leu934Val
XM_017007738.1:c.3039_3040delinsTG	XP_016863227.1:p.Leu1014Val
XM_017007739.1:c.1359_1360delinsTG	XP_016863228.1:p.Leu454Val
XM_024453893.1:c.1359_1360delinsTG	XP_024309661.1:p.Leu454Val
XR_001741141.1:n.3104_3105delinsTG
NM_147127.5:c.3039_3040delinsTG MANE Select	NP_667338.3:p.Leu1014Val
NM_001166136.2:c.2799_2800delinsTG	NP_001159608.1:p.Leu934Val