Canonical Allele Identifier: CA10013406

Gene: KCNE2

Linked Data

• dbSNP Id: rs763797654
• ExAC: 21:35742915 C / CA
• gnomAD v2: 21-35742915-C-CA
• gnomAD v3: 21-34370616-C-CA
• gnomAD v4: 21-34370616-C-CA
• MyVariant Identifiers: chr21:g.35742915_35742916insA (hg19) ; chr21:g.34370616_34370617insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370616_34370617insA , CM000683.2:g.34370616_34370617insA	GRCh38
NC_000021.8:g.35742915_35742916insA , CM000683.1:g.35742915_35742916insA	GRCh37
NC_000021.7:g.34664785_34664786insA	NCBI36
NG_008804.1:g.11593_11594insA , LRG_291:g.11593_11594insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290310.4:c.138_139insA MANE Select	ENSP00000290310.2:p.Tyr47IlefsTer?
ENST00000290310.3:c.138_139insA	ENSP00000290310.2:p.Tyr47IlefsTer?
NM_172201.1:c.138_139insA , LRG_291t1:c.138_139insA	NP_751951.1:p.Tyr47IlefsTer?
XR_937683.1:n.704_705insT
XR_937684.1:n.704_705insT
XR_001755012.2:n.825_826insT
XR_001755013.2:n.704_705insT
XR_937683.2:n.704_705insT
NM_172201.2:c.138_139insA MANE Select	NP_751951.1:p.Tyr47IlefsTer?