Canonical Allele Identifier: CA1139658424

Gene: EVC2

Linked Data

• ClinVar Variation Id: 944240
• ClinVar RCV Id: RCV001214597

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5628611_5634201del , CM000666.2:g.5628611_5634201del	GRCh38
NC_000004.11:g.5630338_5635928del , CM000666.1:g.5630338_5635928del	GRCh37
NC_000004.10:g.5681239_5686829del	NCBI36
NG_015821.1:g.80349_85939del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.1471-2168_1835del
ENST00000310917.6:c.1231-2168_1595del
ENST00000344408.9:c.1471-2168_1835del
ENST00000475313.5:c.1231-2168_1595del
ENST00000509670.1:c.1223-2168_*228del
NM_001166136.1:c.1231-2168_1595del
NM_147127.4:c.1471-2168_1835del
XM_011513392.1:c.1480-2168_1844del
XM_011513393.1:c.1480-2168_1844del
XM_011513394.1:c.1240-2168_1604del
XM_017007736.1:c.1231-2168_1595del
XM_017007737.1:c.1231-2168_1595del
XM_017007738.1:c.1471-2168_1835del
XM_017007739.1:c.-210-2168_155del
XM_024453893.1:c.-314-236_155del
XR_001741141.1:n.1536-2168_1900del
NM_147127.5:c.1471-2168_1835del
NM_001166136.2:c.1231-2168_1595del