Canonical Allele Identifier: CA2573143169
Community Standard Title: NM_001257180.2(SLC20A2):c.80_92del (p.Asn27ThrfsTer12)
Gene: SLC20A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42472302_42472314del , CM000670.2:g.42472302_42472314del GRCh38
NC_000008.10:g.42329820_42329832del , CM000670.1:g.42329820_42329832del GRCh37
NC_000008.9:g.42448977_42448989del NCBI36
NG_032161.1:g.72528_72540del

Transcript Alleles

HGVS Amino-acid Change
NM_001257180.2:c.80_92del MANE Select NP_001244109.1:p.Asn27ThrfsTer12
ENST00000520262.6:c.80_92del MANE Select ENSP00000429754.1:p.Asn27ThrfsTer12
NM_001257180.1:c.80_92del NP_001244109.1:p.Asn27ThrfsTer12
NM_001257181.1:c.80_92del NP_001244110.1:p.Asn27ThrfsTer12
NM_001257181.2:c.80_92del NP_001244110.1:p.Asn27ThrfsTer12
NM_006749.4:c.80_92del NP_006740.1:p.Asn27ThrfsTer12
NM_006749.5:c.80_92del NP_006740.1:p.Asn27ThrfsTer12
ENST00000342228.7:c.80_92del ENSP00000340465.3:p.Asn27ThrfsTer12
ENST00000517366.1:c.80_92del ENSP00000427756.1:p.Asn27ThrfsTer12
ENST00000518717.1:c.80_92del ENSP00000430166.1:p.Asn27ThrfsTer12
ENST00000520179.5:c.80_92del ENSP00000429712.1:p.Asn27ThrfsTer12
ENST00000520262.5:c.80_92del ENSP00000429754.1:p.Asn27ThrfsTer12
ENST00000522707.1:c.80_92del ENSP00000429299.1:p.Asn27ThrfsTer12
ENST00000524211.1:c.80_92del ENSP00000429989.1:p.Asn27ThrfsTer12
XM_005273613.2:c.80_92del XP_005273670.1:p.Asn27ThrfsTer12
XM_005273613.4:c.80_92del XP_005273670.1:p.Asn27ThrfsTer12
XM_005273615.2:c.80_92del XP_005273672.1:p.Asn27ThrfsTer12
XM_005273615.4:c.80_92del XP_005273672.1:p.Asn27ThrfsTer12
XM_006716390.2:c.80_92del XP_006716453.1:p.Asn27ThrfsTer12
XM_006716390.4:c.80_92del XP_006716453.1:p.Asn27ThrfsTer12
XM_006716391.2:c.-467_-455del XP_006716454.1:n.-467_-455del
XM_006716391.4:c.-467_-455del XP_006716454.1:n.-467_-455del
XM_017013748.1:c.80_92del XP_016869237.1:p.Asn27ThrfsTer12
XM_017013749.2:c.80_92del XP_016869238.1:p.Asn27ThrfsTer12
XM_017013750.2:c.-467_-455del XP_016869239.1:n.-467_-455del
XM_017013751.2:c.-467_-455del XP_016869240.1:n.-467_-455del
XM_017013752.2:c.-467_-455del XP_016869241.1:n.-467_-455del
XM_024447235.1:c.80_92del XP_024303003.1:p.Asn27ThrfsTer12
XM_024447236.1:c.80_92del XP_024303004.1:p.Asn27ThrfsTer12
XM_024447237.1:c.80_92del XP_024303005.1:p.Asn27ThrfsTer12