Canonical Allele Identifier: CA320365703

Gene: KCNE2

Linked Data

• dbSNP Id: rs989774708
• gnomAD v2: 21-35742703-G-C
• gnomAD v3: 21-34370404-G-C
• gnomAD v4: 21-34370404-G-C
• MyVariant Identifiers: chr21:g.35742703G>C (hg19) ; chr21:g.34370404G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.34370404G>C , CM000683.2:g.34370404G>C	GRCh38
NC_000021.8:g.35742703G>C , CM000683.1:g.35742703G>C	GRCh37
NC_000021.7:g.34664573G>C	NCBI36
NG_008804.1:g.11381G>C , LRG_291:g.11381G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290310.4:c.-12-63G>C MANE Select	ENSP00000290310.2:n.-12-63G>C
ENST00000290310.3:c.-12-63G>C	ENSP00000290310.2:n.-12-63G>C
NM_172201.1:c.-12-63G>C , LRG_291t1:c.-12-63G>C	NP_751951.1:n.-12-63G>C
XR_937683.1:n.886+31C>G
XR_937684.1:n.886+31C>G
XR_001755012.2:n.1038C>G
XR_001755013.2:n.917C>G
XR_937683.2:n.886+31C>G
NM_172201.2:c.-12-63G>C MANE Select	NP_751951.1:n.-12-63G>C