Canonical Allele Identifier: CA356143225

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618543-G-A
• MyVariant Identifiers: chr4:g.5620270G>A (hg19) ; chr4:g.5618543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618543G>A , CM000666.2:g.5618543G>A	GRCh38
NC_000004.11:g.5620270G>A , CM000666.1:g.5620270G>A	GRCh37
NC_000004.10:g.5671171G>A	NCBI36
NG_015821.1:g.96006C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000344408.10:c.2641C>T MANE Select	ENSP00000342144.5:p.Gln881Ter
ENST00000310917.6:c.2401C>T	ENSP00000311683.2:p.Gln801Ter
ENST00000344408.9:c.2641C>T	ENSP00000342144.5:p.Gln881Ter
ENST00000475313.5:c.2401C>T	ENSP00000431981.1:p.Gln801Ter
ENST00000509670.1:c.*1034C>T	ENSP00000423876.1:n.*1034C>T
NM_001166136.1:c.2401C>T	NP_001159608.1:p.Gln801Ter
NM_147127.4:c.2641C>T	NP_667338.3:p.Gln881Ter
XM_011513392.1:c.2650C>T	XP_011511694.1:p.Gln884Ter
XM_011513393.1:c.2650C>T	XP_011511695.1:p.Gln884Ter
XM_011513394.1:c.2410C>T	XP_011511696.1:p.Gln804Ter
XM_017007736.1:c.2401C>T	XP_016863225.1:p.Gln801Ter
XM_017007737.1:c.2401C>T	XP_016863226.1:p.Gln801Ter
XM_017007738.1:c.2641C>T	XP_016863227.1:p.Gln881Ter
XM_017007739.1:c.961C>T	XP_016863228.1:p.Gln321Ter
XM_024453893.1:c.961C>T	XP_024309661.1:p.Gln321Ter
XR_001741141.1:n.2706C>T
NM_147127.5:c.2641C>T MANE Select	NP_667338.3:p.Gln881Ter
NM_001166136.2:c.2401C>T	NP_001159608.1:p.Gln801Ter