Canonical Allele Identifier: CA2834653

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1117411
• ClinVar RCV Id: RCV001446126 ; RCV003965872
• dbSNP Id: rs752513992
• ExAC: 4:5620304 G / C
• gnomAD v2: 4-5620304-G-C
• gnomAD v3: 4-5618577-G-C
• gnomAD v4: 4-5618577-G-C
• MyVariant Identifiers: chr4:g.5620304G>C (hg19) ; chr4:g.5618577G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618577G>C , CM000666.2:g.5618577G>C	GRCh38
NC_000004.11:g.5620304G>C , CM000666.1:g.5620304G>C	GRCh37
NC_000004.10:g.5671205G>C	NCBI36
NG_015821.1:g.95972C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2607C>G MANE Select	ENSP00000342144.5:p.Pro869=
ENST00000310917.6:c.2367C>G	ENSP00000311683.2:p.Pro789=
ENST00000344408.9:c.2607C>G	ENSP00000342144.5:p.Pro869=
ENST00000475313.5:c.2367C>G	ENSP00000431981.1:p.Pro789=
ENST00000509670.1:c.*1000C>G	ENSP00000423876.1:n.*1000C>G
NM_001166136.1:c.2367C>G	NP_001159608.1:p.Pro789=
NM_147127.4:c.2607C>G	NP_667338.3:p.Pro869=
XM_011513392.1:c.2616C>G	XP_011511694.1:p.Pro872=
XM_011513393.1:c.2616C>G	XP_011511695.1:p.Pro872=
XM_011513394.1:c.2376C>G	XP_011511696.1:p.Pro792=
XM_017007736.1:c.2367C>G	XP_016863225.1:p.Pro789=
XM_017007737.1:c.2367C>G	XP_016863226.1:p.Pro789=
XM_017007738.1:c.2607C>G	XP_016863227.1:p.Pro869=
XM_017007739.1:c.927C>G	XP_016863228.1:p.Pro309=
XM_024453893.1:c.927C>G	XP_024309661.1:p.Pro309=
XR_001741141.1:n.2672C>G
NM_147127.5:c.2607C>G MANE Select	NP_667338.3:p.Pro869=
NM_001166136.2:c.2367C>G	NP_001159608.1:p.Pro789=