Canonical Allele Identifier: CA539592823

Gene: PNKD

Linked Data

• dbSNP Id: rs1192690081
• gnomAD v2: 2-219135221-C-T
• gnomAD v3: 2-218270498-C-T
• gnomAD v4: 2-218270498-C-T
• MyVariant Identifiers: chr2:g.219135221C>T (hg19) ; chr2:g.218270498C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218270498C>T , CM000664.2:g.218270498C>T	GRCh38
NC_000002.11:g.219135221C>T , CM000664.1:g.219135221C>T	GRCh37
NC_000002.10:g.218843465C>T	NCBI36
NG_017060.1:g.5107C>T
NG_033036.1:g.4673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691799.1:n.70+778C>T
ENST00000248451.7:c.-38C>T	ENSP00000248451.3:n.-38C>T
ENST00000273077.8:c.-38C>T	ENSP00000273077.4:n.-38C>T
NM_001077399.2:c.-38C>T	NP_001070867.1:n.-38C>T
NM_015488.4:c.-38C>T	NP_056303.3:n.-38C>T
XM_017003771.1:c.-38C>T	XP_016859260.1:n.-38C>T