Canonical Allele Identifier: CA384088190
Community Standard Title: NM_153207.5(AEBP2):c.983T>C (p.Phe328Ser)
Gene: AEBP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.19473351T>C , CM000674.2:g.19473351T>C GRCh38
NC_000012.11:g.19626285T>C , CM000674.1:g.19626285T>C GRCh37
NC_000012.10:g.19517552T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_153207.5:c.983T>C MANE Select NP_694939.2:p.Phe328Ser
ENST00000266508.14:c.983T>C MANE Select ENSP00000266508.9:p.Phe328Ser
NM_001114176.1:c.983T>C NP_001107648.1:p.Phe328Ser
NM_001114176.2:c.983T>C NP_001107648.1:p.Phe328Ser
NM_001267043.1:c.335T>C NP_001253972.1:p.Phe112Ser
NM_001267043.2:c.335T>C NP_001253972.1:p.Phe112Ser
NM_001363736.1:c.983T>C NP_001350665.1:p.Phe328Ser
NM_001363736.2:c.983T>C NP_001350665.1:p.Phe328Ser
NM_153207.4:c.983T>C NP_694939.2:p.Phe328Ser
ENST00000266508.13:c.983T>C ENSP00000266508.9:p.Phe328Ser
ENST00000360995.8:c.335T>C ENSP00000354267.4:p.Phe112Ser
ENST00000398864.7:c.983T>C ENSP00000381840.3:p.Phe328Ser
ENST00000538425.5:c.296T>C ENSP00000444255.1:p.Phe99Ser
ENST00000541908.5:c.296T>C ENSP00000437983.1:p.Phe99Ser
ENST00000673644.1:c.359T>C ENSP00000501182.1:p.Phe120Ser
ENST00000673824.1:c.296T>C ENSP00000501298.1:p.Phe99Ser
XM_006719031.2:c.983T>C XP_006719094.1:p.Phe328Ser
XM_017018806.1:c.296T>C XP_016874295.1:p.Phe99Ser