Canonical Allele Identifier: CA10013382

Gene: KCNE2

Linked Data

• dbSNP Id: rs772456347
• ExAC: 21:35742743 CTATTT / C
• gnomAD v2: 21-35742743-CTATTT-C
• gnomAD v3: 21-34370444-CTATTT-C
• gnomAD v4: 21-34370444-CTATTT-C
• MyVariant Identifiers: chr21:g.35742744_35742748del (hg19) ; chr21:g.34370445_34370449del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370449_34370453del , CM000683.2:g.34370449_34370453del	GRCh38
NC_000021.8:g.35742748_35742752del , CM000683.1:g.35742748_35742752del	GRCh37
NC_000021.7:g.34664618_34664622del	NCBI36
NG_008804.1:g.11426_11430del , LRG_291:g.11426_11430del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.-12-18_-12-14del MANE Select	ENSP00000290310.2:n.-12-18_-12-14del
ENST00000290310.3:c.-12-18_-12-14del	ENSP00000290310.2:n.-12-18_-12-14del
NM_172201.1:c.-12-18_-12-14del , LRG_291t1:c.-12-18_-12-14del	NP_751951.1:n.-12-18_-12-14del
XR_937683.1:n.872_876del
XR_937684.1:n.872_876del
XR_001755012.2:n.993_997del
XR_001755013.2:n.872_876del
XR_937683.2:n.872_876del
NM_172201.2:c.-12-18_-12-14del MANE Select	NP_751951.1:n.-12-18_-12-14del