Canonical Allele Identifier: CA356143271

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618552-G-T
• MyVariant Identifiers: chr4:g.5620279G>T (hg19) ; chr4:g.5618552G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618552G>T , CM000666.2:g.5618552G>T	GRCh38
NC_000004.11:g.5620279G>T , CM000666.1:g.5620279G>T	GRCh37
NC_000004.10:g.5671180G>T	NCBI36
NG_015821.1:g.95997C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.2632C>A MANE Select	ENSP00000342144.5:p.Gln878Lys
ENST00000310917.6:c.2392C>A	ENSP00000311683.2:p.Gln798Lys
ENST00000344408.9:c.2632C>A	ENSP00000342144.5:p.Gln878Lys
ENST00000475313.5:c.2392C>A	ENSP00000431981.1:p.Gln798Lys
ENST00000509670.1:c.*1025C>A	ENSP00000423876.1:n.*1025C>A
NM_001166136.1:c.2392C>A	NP_001159608.1:p.Gln798Lys
NM_147127.4:c.2632C>A	NP_667338.3:p.Gln878Lys
XM_011513392.1:c.2641C>A	XP_011511694.1:p.Gln881Lys
XM_011513393.1:c.2641C>A	XP_011511695.1:p.Gln881Lys
XM_011513394.1:c.2401C>A	XP_011511696.1:p.Gln801Lys
XM_017007736.1:c.2392C>A	XP_016863225.1:p.Gln798Lys
XM_017007737.1:c.2392C>A	XP_016863226.1:p.Gln798Lys
XM_017007738.1:c.2632C>A	XP_016863227.1:p.Gln878Lys
XM_017007739.1:c.952C>A	XP_016863228.1:p.Gln318Lys
XM_024453893.1:c.952C>A	XP_024309661.1:p.Gln318Lys
XR_001741141.1:n.2697C>A
NM_147127.5:c.2632C>A MANE Select	NP_667338.3:p.Gln878Lys
NM_001166136.2:c.2392C>A	NP_001159608.1:p.Gln798Lys