Canonical Allele Identifier: CA91686413

Gene: EVC2

Linked Data

• dbSNP Id: rs536972869
• gnomAD v4: 4-5562806-T-A
• MyVariant Identifiers: chr4:g.5564533T>A (hg19) ; chr4:g.5562806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562806T>A , CM000666.2:g.5562806T>A	GRCh38
NC_000004.11:g.5564533T>A , CM000666.1:g.5564533T>A	GRCh37
NC_000004.10:g.5615434T>A	NCBI36
NG_015821.1:g.151743A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.*42A>T MANE Select	ENSP00000342144.5:n.*42A>T
ENST00000310917.6:c.*42A>T	ENSP00000311683.2:n.*42A>T
ENST00000344408.9:c.*42A>T	ENSP00000342144.5:n.*42A>T
ENST00000475313.5:c.3419+2452A>T	ENSP00000431981.1:n.3419+2452A>T
ENST00000509670.1:c.*2362A>T	ENSP00000423876.1:n.*2362A>T
NM_001166136.1:c.*42A>T	NP_001159608.1:n.*42A>T
NM_147127.4:c.*42A>T	NP_667338.3:n.*42A>T
XM_011513392.1:c.*42A>T	XP_011511694.1:n.*42A>T
XM_011513393.1:c.3668+2452A>T	XP_011511695.1:n.3668+2452A>T
XM_011513394.1:c.*42A>T	XP_011511696.1:n.*42A>T
XM_017007736.1:c.*42A>T	XP_016863225.1:n.*42A>T
XM_017007737.1:c.*42A>T	XP_016863226.1:n.*42A>T
XM_017007739.1:c.*42A>T	XP_016863228.1:n.*42A>T
XM_024453893.1:c.*42A>T	XP_024309661.1:n.*42A>T
XR_001741141.1:n.3819A>T
NM_147127.5:c.*42A>T MANE Select	NP_667338.3:n.*42A>T
NM_001166136.2:c.*42A>T	NP_001159608.1:n.*42A>T