Canonical Allele Identifier: CA2834655

Gene: EVC2

Linked Data

• ClinVar Variation Id: 1114421
• ClinVar RCV Id: RCV001442120
• dbSNP Id: rs138672121
• ExAC: 4:5620307 G / A
• gnomAD v2: 4-5620307-G-A
• gnomAD v3: 4-5618580-G-A
• gnomAD v4: 4-5618580-G-A
• MyVariant Identifiers: chr4:g.5620307G>A (hg19) ; chr4:g.5618580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618580G>A , CM000666.2:g.5618580G>A	GRCh38
NC_000004.11:g.5620307G>A , CM000666.1:g.5620307G>A	GRCh37
NC_000004.10:g.5671208G>A	NCBI36
NG_015821.1:g.95969C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2604C>T MANE Select	ENSP00000342144.5:p.Leu868=
ENST00000310917.6:c.2364C>T	ENSP00000311683.2:p.Leu788=
ENST00000344408.9:c.2604C>T	ENSP00000342144.5:p.Leu868=
ENST00000475313.5:c.2364C>T	ENSP00000431981.1:p.Leu788=
ENST00000509670.1:c.*997C>T	ENSP00000423876.1:n.*997C>T
NM_001166136.1:c.2364C>T	NP_001159608.1:p.Leu788=
NM_147127.4:c.2604C>T	NP_667338.3:p.Leu868=
XM_011513392.1:c.2613C>T	XP_011511694.1:p.Leu871=
XM_011513393.1:c.2613C>T	XP_011511695.1:p.Leu871=
XM_011513394.1:c.2373C>T	XP_011511696.1:p.Leu791=
XM_017007736.1:c.2364C>T	XP_016863225.1:p.Leu788=
XM_017007737.1:c.2364C>T	XP_016863226.1:p.Leu788=
XM_017007738.1:c.2604C>T	XP_016863227.1:p.Leu868=
XM_017007739.1:c.924C>T	XP_016863228.1:p.Leu308=
XM_024453893.1:c.924C>T	XP_024309661.1:p.Leu308=
XR_001741141.1:n.2669C>T
NM_147127.5:c.2604C>T MANE Select	NP_667338.3:p.Leu868=
NM_001166136.2:c.2364C>T	NP_001159608.1:p.Leu788=