Canonical Allele Identifier: CA913189415
Community Standard Title: NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507GlufsTer2)
Gene: SLC20A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42436992_42436993del , CM000670.2:g.42436992_42436993del GRCh38
NC_000008.10:g.42294510_42294511del , CM000670.1:g.42294510_42294511del GRCh37
NC_000008.9:g.42413667_42413668del NCBI36
NG_032161.1:g.107847_107848del

Transcript Alleles

HGVS Amino-acid Change
NM_001257180.2:c.1520_1521del MANE Select NP_001244109.1:p.Val507GlufsTer2
ENST00000520262.6:c.1520_1521del MANE Select ENSP00000429754.1:p.Val507GlufsTer2
NM_001257180.1:c.1520_1521del NP_001244109.1:p.Val507GlufsTer2
NM_001257181.1:c.1520_1521del NP_001244110.1:p.Val507GlufsTer2
NM_001257181.2:c.1520_1521del NP_001244110.1:p.Val507GlufsTer2
NM_006749.4:c.1520_1521del NP_006740.1:p.Val507GlufsTer2
NM_006749.5:c.1520_1521del NP_006740.1:p.Val507GlufsTer2
ENST00000342228.7:c.1520_1521del ENSP00000340465.3:p.Val507GlufsTer2
ENST00000520179.5:c.1520_1521del ENSP00000429712.1:p.Val507GlufsTer2
ENST00000520262.5:c.1520_1521del ENSP00000429754.1:p.Val507GlufsTer2
XM_005273613.2:c.1520_1521del XP_005273670.1:p.Val507GlufsTer2
XM_005273613.4:c.1520_1521del XP_005273670.1:p.Val507GlufsTer2
XM_005273615.2:c.1520_1521del XP_005273672.1:p.Val507GlufsTer2
XM_005273615.4:c.1520_1521del XP_005273672.1:p.Val507GlufsTer2
XM_006716390.2:c.1379_1380del XP_006716453.1:p.Val460GlufsTer2
XM_006716390.4:c.1379_1380del XP_006716453.1:p.Val460GlufsTer2
XM_006716391.2:c.1109_1110del XP_006716454.1:p.Val370GlufsTer2
XM_006716391.4:c.1109_1110del XP_006716454.1:p.Val370GlufsTer2
XM_017013748.1:c.1520_1521del XP_016869237.1:p.Val507GlufsTer2
XM_017013749.2:c.1379_1380del XP_016869238.1:p.Val460GlufsTer2
XM_017013750.2:c.1109_1110del XP_016869239.1:p.Val370GlufsTer2
XM_017013751.2:c.1109_1110del XP_016869240.1:p.Val370GlufsTer2
XM_017013752.2:c.1109_1110del XP_016869241.1:p.Val370GlufsTer2
XM_024447235.1:c.1520_1521del XP_024303003.1:p.Val507GlufsTer2
XM_024447236.1:c.1520_1521del XP_024303004.1:p.Val507GlufsTer2
XM_024447237.1:c.1379_1380del XP_024303005.1:p.Val460GlufsTer2