Canonical Allele Identifier: CA9205517

Gene: KANK2

Linked Data

• ClinVar Variation Id: 1982014
• ClinVar RCV Id: RCV002766536
• dbSNP Id: rs367879167
• ExAC: 19:11286600 T / C
• gnomAD v2: 19-11286600-T-C
• gnomAD v3: 19-11175924-T-C
• gnomAD v4: 19-11175924-T-C
• MyVariant Identifiers: chr19:g.11286600T>C (hg19) ; chr19:g.11175924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.11175924T>C , CM000681.2:g.11175924T>C	GRCh38
NC_000019.9:g.11286600T>C , CM000681.1:g.11286600T>C	GRCh37
NC_000019.8:g.11147600T>C	NCBI36
NG_051186.1:g.26644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000586659.6:c.1826A>G MANE Select	ENSP00000465650.1:p.Asn609Ser
ENST00000586659.5:c.1826A>G	ENSP00000465650.1:p.Asn609Ser
ENST00000588787.5:c.24A>G
ENST00000589359.5:c.1850A>G	ENSP00000468002.1:p.Asn617Ser
ENST00000589894.1:c.1826A>G	ENSP00000467029.1:p.Asn609Ser
NM_001136191.2:c.1826A>G	NP_001129663.1:p.Asn609Ser
NM_015493.6:c.1850A>G	NP_056308.3:p.Asn617Ser
NM_001329451.1:c.1826A>G	NP_001316380.1:p.Asn609Ser
NM_001136191.3:c.1826A>G MANE Select	NP_001129663.1:p.Asn609Ser
NM_001329451.2:c.1826A>G	NP_001316380.1:p.Asn609Ser
NM_001379548.1:c.1850A>G	NP_001366477.1:p.Asn617Ser
NM_001379549.1:c.1850A>G	NP_001366478.1:p.Asn617Ser
NM_001379550.1:c.1850A>G	NP_001366479.1:p.Asn617Ser
NM_001379551.1:c.1850A>G	NP_001366480.1:p.Asn617Ser
NM_001379552.1:c.1850A>G	NP_001366481.1:p.Asn617Ser
NM_001379553.1:c.1850A>G	NP_001366482.1:p.Asn617Ser
NM_001379554.1:c.1850A>G	NP_001366483.1:p.Asn617Ser
NM_001379555.1:c.1826A>G	NP_001366484.1:p.Asn609Ser
NM_001379556.1:c.1826A>G	NP_001366485.1:p.Asn609Ser
NM_001379557.1:c.1826A>G	NP_001366486.1:p.Asn609Ser
NM_001379558.1:c.1826A>G	NP_001366487.1:p.Asn609Ser
NM_001379559.1:c.1826A>G	NP_001366488.1:p.Asn609Ser
NM_001379560.1:c.1826A>G	NP_001366489.1:p.Asn609Ser
NM_001379561.1:c.1826A>G	NP_001366490.1:p.Asn609Ser
NM_001379562.1:c.1826A>G	NP_001366491.1:p.Asn609Ser
NM_001379563.1:c.1826A>G	NP_001366492.1:p.Asn609Ser
NM_015493.7:c.1850A>G	NP_056308.3:p.Asn617Ser