Canonical Allele Identifier: CA356147875

Gene: EVC2

Linked Data

• dbSNP Id: rs1265132728
• gnomAD v2: 4-5630428-C-A
• MyVariant Identifiers: chr4:g.5630428C>A (hg19) ; chr4:g.5628701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628701C>A , CM000666.2:g.5628701C>A	GRCh38
NC_000004.11:g.5630428C>A , CM000666.1:g.5630428C>A	GRCh37
NC_000004.10:g.5681329C>A	NCBI36
NG_015821.1:g.85848G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1744G>T MANE Select	ENSP00000342144.5:p.Ala582Ser
ENST00000310917.6:c.1504G>T	ENSP00000311683.2:p.Ala502Ser
ENST00000344408.9:c.1744G>T	ENSP00000342144.5:p.Ala582Ser
ENST00000475313.5:c.1504G>T	ENSP00000431981.1:p.Ala502Ser
ENST00000509670.1:c.*137G>T	ENSP00000423876.1:n.*137G>T
NM_001166136.1:c.1504G>T	NP_001159608.1:p.Ala502Ser
NM_147127.4:c.1744G>T	NP_667338.3:p.Ala582Ser
XM_011513392.1:c.1753G>T	XP_011511694.1:p.Ala585Ser
XM_011513393.1:c.1753G>T	XP_011511695.1:p.Ala585Ser
XM_011513394.1:c.1513G>T	XP_011511696.1:p.Ala505Ser
XM_017007736.1:c.1504G>T	XP_016863225.1:p.Ala502Ser
XM_017007737.1:c.1504G>T	XP_016863226.1:p.Ala502Ser
XM_017007738.1:c.1744G>T	XP_016863227.1:p.Ala582Ser
XM_017007739.1:c.64G>T	XP_016863228.1:p.Ala22Ser
XM_024453893.1:c.64G>T	XP_024309661.1:p.Ala22Ser
XR_001741141.1:n.1809G>T
NM_147127.5:c.1744G>T MANE Select	NP_667338.3:p.Ala582Ser
NM_001166136.2:c.1504G>T	NP_001159608.1:p.Ala502Ser