Canonical Allele Identifier: CA171496
Gene: KANK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 158088
ClinVar RCV Id: RCV000145417
dbSNP Id: rs606231303
MyVariant Identifiers: chr19:g.11285208G>A (hg19) chr19:g.11174532G>A (hg38)
PubMed: PMID:24671081
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.11174532G>A , CM000681.2:g.11174532G>A GRCh38
NC_000019.9:g.11285208G>A , CM000681.1:g.11285208G>A GRCh37
NC_000019.8:g.11146208G>A NCBI36
NG_051186.1:g.28036C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000586659.6:c.2009C>T MANE Select ENSP00000465650.1:p.Ala670Val
ENST00000586659.5:c.2009C>T ENSP00000465650.1:p.Ala670Val
ENST00000588787.5:c.207C>T
ENST00000589359.5:c.2033C>T ENSP00000468002.1:p.Ala678Val
ENST00000589894.1:c.2009C>T ENSP00000467029.1:p.Ala670Val
NM_001136191.2:c.2009C>T NP_001129663.1:p.Ala670Val
NM_015493.6:c.2033C>T NP_056308.3:p.Ala678Val
NM_001329451.1:c.2009C>T NP_001316380.1:p.Ala670Val
NM_001136191.3:c.2009C>T MANE Select NP_001129663.1:p.Ala670Val
NM_001329451.2:c.2009C>T NP_001316380.1:p.Ala670Val
NM_001379548.1:c.2033C>T NP_001366477.1:p.Ala678Val
NM_001379549.1:c.2033C>T NP_001366478.1:p.Ala678Val
NM_001379550.1:c.2033C>T NP_001366479.1:p.Ala678Val
NM_001379551.1:c.2033C>T NP_001366480.1:p.Ala678Val
NM_001379552.1:c.2033C>T NP_001366481.1:p.Ala678Val
NM_001379553.1:c.2033C>T NP_001366482.1:p.Ala678Val
NM_001379554.1:c.2033C>T NP_001366483.1:p.Ala678Val
NM_001379555.1:c.2009C>T NP_001366484.1:p.Ala670Val
NM_001379556.1:c.2009C>T NP_001366485.1:p.Ala670Val
NM_001379557.1:c.2009C>T NP_001366486.1:p.Ala670Val
NM_001379558.1:c.2009C>T NP_001366487.1:p.Ala670Val
NM_001379559.1:c.2009C>T NP_001366488.1:p.Ala670Val
NM_001379560.1:c.2009C>T NP_001366489.1:p.Ala670Val
NM_001379561.1:c.2009C>T NP_001366490.1:p.Ala670Val
NM_001379562.1:c.2009C>T NP_001366491.1:p.Ala670Val
NM_001379563.1:c.2009C>T NP_001366492.1:p.Ala670Val
NM_015493.7:c.2033C>T NP_056308.3:p.Ala678Val
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