Canonical Allele Identifier: CA16530072
Gene: PKD1L2 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.81122917T>C
GRCh37 chr16:g.81156522T>C
gnomAD v2:
16:81156522 T / C
gnomAD v3:
16:81122917 T / C
gnomAD v4:
chr16-81122917-T-C
Joint Max Group AF 0.55742747 (NFE)
Genomes Max Group AF 0.55740155 (NFE)
Exomes Max Group AF 0.34157938 (NFE)
dbSNP:
4889240
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81122917T>C , CM000678.2:g.81122917T>C GRCh38
NC_000016.9:g.81156522T>C , CM000678.1:g.81156522T>C GRCh37
NC_000016.8:g.79714023T>C NCBI36
NG_033236.1:g.102455A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000525539.5:c.6483+734A>G ENSP00000434417.1:n.6483+734A>G
ENST00000533478.5:c.4428+734A>G ENSP00000434644.1:n.4428+734A>G
ENST00000534142.5:n.872+734A>G
ENST00000614230.4:c.6481+734A>G ENSP00000483832.1:n.6481+734A>G
NM_001278425.1:c.4429+734A>G NP_001265354.1:n.4429+734A>G
NM_052892.3:c.6484+734A>G NP_443124.3:n.6484+734A>G
NR_126532.1:n.6483+734A>G
NM_001278425.2:c.4429+734A>G NP_001265354.1:n.4429+734A>G
NM_052892.4:c.6484+734A>G NP_443124.3:n.6484+734A>G
NR_126532.2:n.6507+734A>G
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