Canonical Allele Identifier: CA356147647

Gene: EVC2

Linked Data

• ClinVar Variation Id: 2419617
• ClinVar RCV Id: RCV003115502
• gnomAD v4: 4-5628634-G-A
• MyVariant Identifiers: chr4:g.5630361G>A (hg19) ; chr4:g.5628634G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628634G>A , CM000666.2:g.5628634G>A	GRCh38
NC_000004.11:g.5630361G>A , CM000666.1:g.5630361G>A	GRCh37
NC_000004.10:g.5681262G>A	NCBI36
NG_015821.1:g.85915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1811C>T MANE Select	ENSP00000342144.5:p.Ser604Leu
ENST00000310917.6:c.1571C>T	ENSP00000311683.2:p.Ser524Leu
ENST00000344408.9:c.1811C>T	ENSP00000342144.5:p.Ser604Leu
ENST00000475313.5:c.1571C>T	ENSP00000431981.1:p.Ser524Leu
ENST00000509670.1:c.*204C>T	ENSP00000423876.1:n.*204C>T
NM_001166136.1:c.1571C>T	NP_001159608.1:p.Ser524Leu
NM_147127.4:c.1811C>T	NP_667338.3:p.Ser604Leu
XM_011513392.1:c.1820C>T	XP_011511694.1:p.Ser607Leu
XM_011513393.1:c.1820C>T	XP_011511695.1:p.Ser607Leu
XM_011513394.1:c.1580C>T	XP_011511696.1:p.Ser527Leu
XM_017007736.1:c.1571C>T	XP_016863225.1:p.Ser524Leu
XM_017007737.1:c.1571C>T	XP_016863226.1:p.Ser524Leu
XM_017007738.1:c.1811C>T	XP_016863227.1:p.Ser604Leu
XM_017007739.1:c.131C>T	XP_016863228.1:p.Ser44Leu
XM_024453893.1:c.131C>T	XP_024309661.1:p.Ser44Leu
XR_001741141.1:n.1876C>T
NM_147127.5:c.1811C>T MANE Select	NP_667338.3:p.Ser604Leu
NM_001166136.2:c.1571C>T	NP_001159608.1:p.Ser524Leu