Canonical Allele Identifier: CA356147016

Gene: EVC2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5563020A>T , CM000666.2:g.5563020A>T	GRCh38
NC_000004.11:g.5564747A>T , CM000666.1:g.5564747A>T	GRCh37
NC_000004.10:g.5615648A>T	NCBI36
NG_015821.1:g.151529T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3755T>A MANE Select	ENSP00000342144.5:p.Leu1252Gln
ENST00000310917.6:c.3515T>A	ENSP00000311683.2:p.Leu1172Gln
ENST00000344408.9:c.3755T>A	ENSP00000342144.5:p.Leu1252Gln
ENST00000475313.5:c.3419+2238T>A	ENSP00000431981.1:n.3419+2238T>A
ENST00000509670.1:c.*2148T>A	ENSP00000423876.1:n.*2148T>A
NM_001166136.1:c.3515T>A	NP_001159608.1:p.Leu1172Gln
NM_147127.4:c.3755T>A	NP_667338.3:p.Leu1252Gln
XM_011513392.1:c.3764T>A	XP_011511694.1:p.Leu1255Gln
XM_011513393.1:c.3668+2238T>A	XP_011511695.1:n.3668+2238T>A
XM_011513394.1:c.3524T>A	XP_011511696.1:p.Leu1175Gln
XM_017007736.1:c.3515T>A	XP_016863225.1:p.Leu1172Gln
XM_017007737.1:c.3515T>A	XP_016863226.1:p.Leu1172Gln
XM_017007739.1:c.2075T>A	XP_016863228.1:p.Leu692Gln
XM_024453893.1:c.2075T>A	XP_024309661.1:p.Leu692Gln
XR_001741141.1:n.3605T>A
NM_147127.5:c.3755T>A MANE Select	NP_667338.3:p.Leu1252Gln
NM_001166136.2:c.3515T>A	NP_001159608.1:p.Leu1172Gln