Canonical Allele Identifier: CA356143479

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2950681
• ClinVar RCV Id: RCV003809991
• MyVariant Identifiers: chr4:g.5620324C>T (hg19) ; chr4:g.5618597C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618597C>T , CM000666.2:g.5618597C>T	GRCh38
NC_000004.11:g.5620324C>T , CM000666.1:g.5620324C>T	GRCh37
NC_000004.10:g.5671225C>T	NCBI36
NG_015821.1:g.95952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2587G>A MANE Select	ENSP00000342144.5:p.Asp863Asn
ENST00000310917.6:c.2347G>A	ENSP00000311683.2:p.Asp783Asn
ENST00000344408.9:c.2587G>A	ENSP00000342144.5:p.Asp863Asn
ENST00000475313.5:c.2347G>A	ENSP00000431981.1:p.Asp783Asn
ENST00000509670.1:c.*980G>A	ENSP00000423876.1:n.*980G>A
NM_001166136.1:c.2347G>A	NP_001159608.1:p.Asp783Asn
NM_147127.4:c.2587G>A	NP_667338.3:p.Asp863Asn
XM_011513392.1:c.2596G>A	XP_011511694.1:p.Asp866Asn
XM_011513393.1:c.2596G>A	XP_011511695.1:p.Asp866Asn
XM_011513394.1:c.2356G>A	XP_011511696.1:p.Asp786Asn
XM_017007736.1:c.2347G>A	XP_016863225.1:p.Asp783Asn
XM_017007737.1:c.2347G>A	XP_016863226.1:p.Asp783Asn
XM_017007738.1:c.2587G>A	XP_016863227.1:p.Asp863Asn
XM_017007739.1:c.907G>A	XP_016863228.1:p.Asp303Asn
XM_024453893.1:c.907G>A	XP_024309661.1:p.Asp303Asn
XR_001741141.1:n.2652G>A
NM_147127.5:c.2587G>A MANE Select	NP_667338.3:p.Asp863Asn
NM_001166136.2:c.2347G>A	NP_001159608.1:p.Asp783Asn