Canonical Allele Identifier: CA8702945
Community Standard Title: NM_030576.4(LIMD2):c.179T>C (p.Phe60Ser)
Gene: LIMD2 HGNC NCBI
STRADA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63698844A>G , CM000679.2:g.63698844A>G GRCh38
NC_000017.10:g.61776204A>G , CM000679.1:g.61776204A>G GRCh37
NC_000017.9:g.59129936A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_030576.4:c.179T>C (LIMD2) MANE Select NP_085053.1:p.Phe60Ser
ENST00000259006.8:c.179T>C (LIMD2) MANE Select ENSP00000259006.3:p.Phe60Ser
NM_030576.3:c.179T>C (LIMD2) NP_085053.1:p.Phe60Ser
ENST00000259006.7:c.179T>C (LIMD2) ENSP00000259006.3:p.Phe60Ser
ENST00000578061.5:c.179T>C (LIMD2) ENSP00000464003.1:p.Phe60Ser
ENST00000578067.5:n.1078T>C (LIMD2)
ENST00000578297.1:n.501T>C (LIMD2)
ENST00000578402.5:c.179T>C (LIMD2) ENSP00000462707.1:p.Phe60Ser
ENST00000578993.5:c.85-26T>C (LIMD2) ENSP00000462125.1:n.85-26T>C
ENST00000579329.1:n.332T>C (LIMD2)
ENST00000579814.1:n.419T>C (LIMD2)
ENST00000580222.5:c.32T>C (LIMD2) ENSP00000463409.1:p.Phe11Ser
ENST00000582055.1:c.32T>C (LIMD2) ENSP00000463656.1:p.Phe11Ser
ENST00000583211.5:c.32T>C (LIMD2) ENSP00000463089.1:p.Phe11Ser
ENST00000584645.1:c.179T>C (LIMD2) ENSP00000463805.1:p.Phe60Ser
ENST00000640870.1:c.*184+5161T>C (STRADA) ENSP00000492479.1:n.*184+5161T>C
XM_005257703.1:c.179T>C (LIMD2) XP_005257760.1:p.Phe60Ser
XM_005257705.2:c.179T>C (LIMD2) XP_005257762.1:p.Phe60Ser
XM_005257705.4:c.179T>C (LIMD2) XP_005257762.1:p.Phe60Ser
XM_006722124.1:c.179T>C (LIMD2) XP_006722187.1:p.Phe60Ser
XM_006722124.2:c.179T>C (LIMD2) XP_006722187.1:p.Phe60Ser
XM_006722125.2:c.179T>C (LIMD2) XP_006722188.1:p.Phe60Ser