Canonical Allele Identifier: CA2834238

Gene: EVC2

Linked Data

• ClinVar Variation Id: 348980
• ClinVar RCV Id: RCV000521259 ; RCV000665483 ; RCV000695869 ; RCV003922532
• dbSNP Id: rs200300612
• ExAC: 4:5566983 A / G
• gnomAD v2: 4-5566983-A-G
• gnomAD v3: 4-5565256-A-G
• gnomAD v4: 4-5565256-A-G
• MyVariant Identifiers: chr4:g.5566983A>G (hg19) ; chr4:g.5565256A>G (hg38)
• PubMed: PMID:17024374 ; PMID:19251731 ; PMID:19876929 ; PMID:23220543

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5565256A>G , CM000666.2:g.5565256A>G	GRCh38
NC_000004.11:g.5566983A>G , CM000666.1:g.5566983A>G	GRCh37
NC_000004.10:g.5617884A>G	NCBI36
NG_015821.1:g.149293T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3659+2T>C MANE Select	ENSP00000342144.5:n.3659+2T>C
ENST00000310917.6:c.3419+2T>C	ENSP00000311683.2:n.3419+2T>C
ENST00000344408.9:c.3659+2T>C	ENSP00000342144.5:n.3659+2T>C
ENST00000475313.5:c.3419+2T>C	ENSP00000431981.1:n.3419+2T>C
ENST00000509670.1:c.*2052+2T>C	ENSP00000423876.1:n.*2052+2T>C
NM_001166136.1:c.3419+2T>C	NP_001159608.1:n.3419+2T>C
NM_147127.4:c.3659+2T>C	NP_667338.3:n.3659+2T>C
XM_011513392.1:c.3668+2T>C	XP_011511694.1:n.3668+2T>C
XM_011513393.1:c.3668+2T>C	XP_011511695.1:n.3668+2T>C
XM_011513394.1:c.3428+2T>C	XP_011511696.1:n.3428+2T>C
XM_017007736.1:c.3419+2T>C	XP_016863225.1:n.3419+2T>C
XM_017007737.1:c.3419+2T>C	XP_016863226.1:n.3419+2T>C
XM_017007739.1:c.1979+2T>C	XP_016863228.1:n.1979+2T>C
XM_024453893.1:c.1979+2T>C	XP_024309661.1:n.1979+2T>C
XR_001741141.1:n.3509+2T>C
NM_147127.5:c.3659+2T>C MANE Select	NP_667338.3:n.3659+2T>C
NM_001166136.2:c.3419+2T>C	NP_001159608.1:n.3419+2T>C