Canonical Allele Identifier: CA2879747
Community Standard Title: NM_006424.3(SLC34A2):c.1238G>A (p.Trp413Ter)
Gene: SLC34A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.25674317G>A , CM000666.2:g.25674317G>A GRCh38
NC_000004.11:g.25675939G>A , CM000666.1:g.25675939G>A GRCh37
NC_000004.10:g.25285037G>A NCBI36
NG_021185.1:g.23505G>A

Transcript Alleles

HGVS Amino-acid Change
NM_006424.3:c.1238G>A MANE Select NP_006415.3:p.Trp413Ter
ENST00000382051.8:c.1238G>A MANE Select ENSP00000371483.3:p.Trp413Ter
NM_001177998.1:c.1235G>A NP_001171469.1:p.Trp412Ter
NM_001177998.2:c.1235G>A NP_001171469.2:p.Trp412Ter
NM_001177999.1:c.1235G>A NP_001171470.1:p.Trp412Ter
NM_001177999.2:c.1235G>A NP_001171470.2:p.Trp412Ter
NM_006424.2:c.1238G>A NP_006415.2:p.Trp413Ter
ENST00000382051.7:c.1238G>A ENSP00000371483.3:p.Trp413Ter
ENST00000503434.5:c.1235G>A ENSP00000423021.1:p.Trp412Ter
ENST00000504570.5:c.1235G>A ENSP00000425501.1:p.Trp412Ter
ENST00000645788.1:c.1235G>A ENSP00000494094.1:p.Trp412Ter