Canonical Allele Identifier: CA379496064
Gene: SAA2 HGNC NCBI
SAA2-SAA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18245447G>T , CM000673.2:g.18245447G>T GRCh38
NC_000011.9:g.18266994G>T , CM000673.1:g.18266994G>T GRCh37
NC_000011.8:g.18223570G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000256733.9:c.299C>A (SAA2) MANE Select ENSP00000256733.5:p.Ala100Asp
ENST00000256733.8:c.299C>A (SAA2) ENSP00000256733.4:p.Ala100Asp
ENST00000414546.6:c.230+463C>A (SAA2) ENSP00000416716.2:n.230+463C>A
ENST00000524555.3:c.230+463C>A (SAA2-SAA4) ENSP00000485552.1:n.230+463C>A
ENST00000526900.1:c.299C>A (SAA2) ENSP00000436126.1:p.Ala100Asp
ENST00000528349.5:c.230+463C>A (SAA2) ENSP00000435659.1:n.230+463C>A
ENST00000529528.5:c.299C>A (SAA2) ENSP00000437162.1:p.Ala100Asp
ENST00000530400.5:c.230+463C>A (SAA2) ENSP00000432370.1:n.230+463C>A
NM_001127380.2:c.230+463C>A (SAA2) NP_001120852.1:n.230+463C>A
NM_001199744.1:c.230+463C>A (SAA2-SAA4) NP_001186673.1:n.230+463C>A
NM_030754.4:c.299C>A (SAA2) NP_110381.2:p.Ala100Asp
NM_001127380.3:c.230+463C>A (SAA2) NP_001120852.1:n.230+463C>A
NM_001199744.2:c.230+463C>A (SAA2-SAA4) NP_001186673.1:n.230+463C>A
NM_030754.5:c.299C>A (SAA2) MANE Select NP_110381.2:p.Ala100Asp
NM_001385666.1:c.299C>A (SAA2) NP_001372595.1:p.Ala100Asp
NM_001385667.1:c.230+463C>A (SAA2) NP_001372596.1:n.230+463C>A
NM_001385668.1:c.160C>A (SAA2) NP_001372597.1:p.Pro54Thr
NM_001385669.1:c.231-124C>A (SAA2) NP_001372598.1:n.231-124C>A
NM_001385670.1:c.231-25C>A (SAA2) NP_001372599.1:n.231-25C>A
NM_001385671.1:c.197C>A (SAA2) NP_001372600.1:p.Ala66Asp
NM_001385672.1:c.230+463C>A (SAA2) NP_001372601.1:n.230+463C>A
NM_001385673.1:c.67C>A (SAA2) NP_001372602.1:p.Pro23Thr
NR_169749.1:n.300+463C>A (SAA2)
NR_169750.1:n.161+2474C>A (SAA2)