Canonical Allele Identifier: CA400863115
Gene: KCNJ2 HGNC NCBI

Linked Data

gnomAD v4: 17-70176055-T-C
MyVariant Identifiers: chr17:g.68172196T>C (hg19) chr17:g.70176055T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.70176055T>C , CM000679.2:g.70176055T>C GRCh38
NC_000017.10:g.68172196T>C , CM000679.1:g.68172196T>C GRCh37
NC_000017.9:g.65683791T>C NCBI36
NG_008798.1:g.11521T>C , LRG_328:g.11521T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000243457.4:c.1016T>C MANE Select ENSP00000243457.2:p.Val339Ala
ENST00000243457.3:c.1016T>C ENSP00000243457.2:p.Val339Ala
ENST00000535240.1:c.1016T>C ENSP00000441848.1:p.Val339Ala
NM_000891.2:c.1016T>C , LRG_328t1:c.1016T>C NP_000882.1:p.Val339Ala
XM_011524779.1:c.1016T>C XP_011523081.1:p.Val339Ala
NM_000891.3:c.1016T>C MANE Select NP_000882.1:p.Val339Ala
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