Canonical Allele Identifier: CA91712378

Gene: EVC2

Linked Data

• dbSNP Id: rs942707279
• gnomAD v4: 4-5628642-G-T
• MyVariant Identifiers: chr4:g.5630369G>T (hg19) ; chr4:g.5628642G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628642G>T , CM000666.2:g.5628642G>T	GRCh38
NC_000004.11:g.5630369G>T , CM000666.1:g.5630369G>T	GRCh37
NC_000004.10:g.5681270G>T	NCBI36
NG_015821.1:g.85907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1803C>A MANE Select	ENSP00000342144.5:p.Asn601Lys
ENST00000310917.6:c.1563C>A	ENSP00000311683.2:p.Asn521Lys
ENST00000344408.9:c.1803C>A	ENSP00000342144.5:p.Asn601Lys
ENST00000475313.5:c.1563C>A	ENSP00000431981.1:p.Asn521Lys
ENST00000509670.1:c.*196C>A	ENSP00000423876.1:n.*196C>A
NM_001166136.1:c.1563C>A	NP_001159608.1:p.Asn521Lys
NM_147127.4:c.1803C>A	NP_667338.3:p.Asn601Lys
XM_011513392.1:c.1812C>A	XP_011511694.1:p.Asn604Lys
XM_011513393.1:c.1812C>A	XP_011511695.1:p.Asn604Lys
XM_011513394.1:c.1572C>A	XP_011511696.1:p.Asn524Lys
XM_017007736.1:c.1563C>A	XP_016863225.1:p.Asn521Lys
XM_017007737.1:c.1563C>A	XP_016863226.1:p.Asn521Lys
XM_017007738.1:c.1803C>A	XP_016863227.1:p.Asn601Lys
XM_017007739.1:c.123C>A	XP_016863228.1:p.Asn41Lys
XM_024453893.1:c.123C>A	XP_024309661.1:p.Asn41Lys
XR_001741141.1:n.1868C>A
NM_147127.5:c.1803C>A MANE Select	NP_667338.3:p.Asn601Lys
NM_001166136.2:c.1563C>A	NP_001159608.1:p.Asn521Lys