Canonical Allele Identifier: CA2669800460

Gene: EVC2

Linked Data

• gnomAD v4: 4-5618548-T-TGCTGCAGCAGAACTCGGGCCCGGATCTTGGGGAGGGCCAAGCTCCTGTCCATCTGAGCAAAGCAGCCATGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5618549_5618620dup , CM000666.2:g.5618549_5618620dup	GRCh38
NC_000004.11:g.5620276_5620347dup , CM000666.1:g.5620276_5620347dup	GRCh37
NC_000004.10:g.5671177_5671248dup	NCBI36
NG_015821.1:g.95929_96000dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.2564_2635dup MANE Select	ENSP00000342144.5:p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetA...
ENST00000310917.6:c.2324_2395dup	ENSP00000311683.2:p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetA...
ENST00000344408.9:c.2564_2635dup	ENSP00000342144.5:p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetA...
ENST00000475313.5:c.2324_2395dup	ENSP00000431981.1:p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetA...
ENST00000509670.1:c.*957_*1028dup	ENSP00000423876.1:n.*957_*1028dup
NM_001166136.1:c.2324_2395dup	NP_001159608.1:p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetAspA...
NM_147127.4:c.2564_2635dup	NP_667338.3:p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetAspArgS...
XM_011513392.1:c.2573_2644dup	XP_011511694.1:p.Gln881_Gln882insLeuHisGlyCysPheAlaGlnMetAspA...
XM_011513393.1:c.2573_2644dup	XP_011511695.1:p.Gln881_Gln882insLeuHisGlyCysPheAlaGlnMetAspA...
XM_011513394.1:c.2333_2404dup	XP_011511696.1:p.Gln801_Gln802insLeuHisGlyCysPheAlaGlnMetAspA...
XM_017007736.1:c.2324_2395dup	XP_016863225.1:p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetAspA...
XM_017007737.1:c.2324_2395dup	XP_016863226.1:p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetAspA...
XM_017007738.1:c.2564_2635dup	XP_016863227.1:p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetAspA...
XM_017007739.1:c.884_955dup	XP_016863228.1:p.Gln318_Gln319insLeuHisGlyCysPheAlaGlnMetAspA...
XM_024453893.1:c.884_955dup	XP_024309661.1:p.Gln318_Gln319insLeuHisGlyCysPheAlaGlnMetAspA...
XR_001741141.1:n.2629_2700dup
NM_147127.5:c.2564_2635dup MANE Select	NP_667338.3:p.Gln878_Gln879insLeuHisGlyCysPheAlaGlnMetAspArgS...
NM_001166136.2:c.2324_2395dup	NP_001159608.1:p.Gln798_Gln799insLeuHisGlyCysPheAlaGlnMetAspA...