Canonical Allele Identifier: CA2835130

Gene: EVC2

Linked Data

• ClinVar Variation Id: 349090
• ClinVar RCV Id: RCV000377763 ; RCV002523471
• dbSNP Id: rs780517206
• ExAC: 4:5642557 A / G
• gnomAD v2: 4-5642557-A-G
• gnomAD v3: 4-5640830-A-G
• gnomAD v4: 4-5640830-A-G
• MyVariant Identifiers: chr4:g.5642557A>G (hg19) ; chr4:g.5640830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5640830A>G , CM000666.2:g.5640830A>G	GRCh38
NC_000004.11:g.5642557A>G , CM000666.1:g.5642557A>G	GRCh37
NC_000004.10:g.5693458A>G	NCBI36
NG_015821.1:g.73719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1154T>C MANE Select	ENSP00000342144.5:p.Ile385Thr
ENST00000310917.6:c.914T>C	ENSP00000311683.2:p.Ile305Thr
ENST00000344408.9:c.1154T>C	ENSP00000342144.5:p.Ile385Thr
ENST00000475313.5:c.914T>C	ENSP00000431981.1:p.Ile305Thr
ENST00000509670.1:c.914T>C	ENSP00000423876.1:p.Ile305Thr
NM_001166136.1:c.914T>C	NP_001159608.1:p.Ile305Thr
NM_147127.4:c.1154T>C	NP_667338.3:p.Ile385Thr
XM_011513392.1:c.1154T>C	XP_011511694.1:p.Ile385Thr
XM_011513393.1:c.1154T>C	XP_011511695.1:p.Ile385Thr
XM_011513394.1:c.914T>C	XP_011511696.1:p.Ile305Thr
XM_017007736.1:c.914T>C	XP_016863225.1:p.Ile305Thr
XM_017007737.1:c.914T>C	XP_016863226.1:p.Ile305Thr
XM_017007738.1:c.1154T>C	XP_016863227.1:p.Ile385Thr
XM_017007739.1:c.-519T>C	XP_016863228.1:n.-519T>C
XM_024453893.1:c.-623T>C	XP_024309661.1:n.-623T>C
XR_001741141.1:n.1219T>C
NM_147127.5:c.1154T>C MANE Select	NP_667338.3:p.Ile385Thr
NM_001166136.2:c.914T>C	NP_001159608.1:p.Ile305Thr