Canonical Allele Identifier: CA438205021

Gene: EVC2

Linked Data

• gnomAD v4: 4-5628608-G-A
• COSMIC: COSM1753779 ; COSM4005776
• MyVariant Identifiers: chr4:g.5630335G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628608G>A , CM000666.2:g.5628608G>A	GRCh38
NC_000004.11:g.5630335G>A , CM000666.1:g.5630335G>A	GRCh37
NC_000004.10:g.5681236G>A	NCBI36
NG_015821.1:g.85941C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1837C>T MANE Select	ENSP00000342144.5:p.Leu613=
ENST00000310917.6:c.1597C>T	ENSP00000311683.2:p.Leu533=
ENST00000344408.9:c.1837C>T	ENSP00000342144.5:p.Leu613=
ENST00000475313.5:c.1597C>T	ENSP00000431981.1:p.Leu533=
ENST00000509670.1:c.*230C>T	ENSP00000423876.1:n.*230C>T
NM_001166136.1:c.1597C>T	NP_001159608.1:p.Leu533=
NM_147127.4:c.1837C>T	NP_667338.3:p.Leu613=
XM_011513392.1:c.1846C>T	XP_011511694.1:p.Leu616=
XM_011513393.1:c.1846C>T	XP_011511695.1:p.Leu616=
XM_011513394.1:c.1606C>T	XP_011511696.1:p.Leu536=
XM_017007736.1:c.1597C>T	XP_016863225.1:p.Leu533=
XM_017007737.1:c.1597C>T	XP_016863226.1:p.Leu533=
XM_017007738.1:c.1837C>T	XP_016863227.1:p.Leu613=
XM_017007739.1:c.157C>T	XP_016863228.1:p.Leu53=
XM_024453893.1:c.157C>T	XP_024309661.1:p.Leu53=
XR_001741141.1:n.1902C>T
NM_147127.5:c.1837C>T MANE Select	NP_667338.3:p.Leu613=
NM_001166136.2:c.1597C>T	NP_001159608.1:p.Leu533=