Canonical Allele Identifier: CA356143671

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1969489
• ClinVar RCV Id: RCV002760155
• dbSNP Id: rs1715456625
• gnomAD v4: 4-5618672-A-G
• MyVariant Identifiers: chr4:g.5620399A>G (hg19) ; chr4:g.5618672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618672A>G , CM000666.2:g.5618672A>G	GRCh38
NC_000004.11:g.5620399A>G , CM000666.1:g.5620399A>G	GRCh37
NC_000004.10:g.5671300A>G	NCBI36
NG_015821.1:g.95877T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2512T>C MANE Select	ENSP00000342144.5:p.Ser838Pro
ENST00000310917.6:c.2272T>C	ENSP00000311683.2:p.Ser758Pro
ENST00000344408.9:c.2512T>C	ENSP00000342144.5:p.Ser838Pro
ENST00000475313.5:c.2272T>C	ENSP00000431981.1:p.Ser758Pro
ENST00000509670.1:c.*905T>C	ENSP00000423876.1:n.*905T>C
NM_001166136.1:c.2272T>C	NP_001159608.1:p.Ser758Pro
NM_147127.4:c.2512T>C	NP_667338.3:p.Ser838Pro
XM_011513392.1:c.2521T>C	XP_011511694.1:p.Ser841Pro
XM_011513393.1:c.2521T>C	XP_011511695.1:p.Ser841Pro
XM_011513394.1:c.2281T>C	XP_011511696.1:p.Ser761Pro
XM_017007736.1:c.2272T>C	XP_016863225.1:p.Ser758Pro
XM_017007737.1:c.2272T>C	XP_016863226.1:p.Ser758Pro
XM_017007738.1:c.2512T>C	XP_016863227.1:p.Ser838Pro
XM_017007739.1:c.832T>C	XP_016863228.1:p.Ser278Pro
XM_024453893.1:c.832T>C	XP_024309661.1:p.Ser278Pro
XR_001741141.1:n.2577T>C
NM_147127.5:c.2512T>C MANE Select	NP_667338.3:p.Ser838Pro
NM_001166136.2:c.2272T>C	NP_001159608.1:p.Ser758Pro