Canonical Allele Identifier: CA218546154
Gene: SAA2 HGNC NCBI
SAA2-SAA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.18244252C>T , CM000673.2:g.18244252C>T GRCh38
NC_000011.9:g.18265799C>T , CM000673.1:g.18265799C>T GRCh37
NC_000011.8:g.18222375C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000414546.6:c.230+1658G>A (SAA2) ENSP00000416716.2:n.230+1658G>A
ENST00000524555.3:c.230+1658G>A (SAA2-SAA4) ENSP00000485552.1:n.230+1658G>A
ENST00000528349.5:c.231-1433G>A (SAA2) ENSP00000435659.1:n.231-1433G>A
ENST00000530400.5:c.230+1658G>A (SAA2) ENSP00000432370.1:n.230+1658G>A
NM_001127380.2:c.230+1658G>A (SAA2) NP_001120852.1:n.230+1658G>A
NM_001199744.1:c.230+1658G>A (SAA2-SAA4) NP_001186673.1:n.230+1658G>A
NM_001127380.3:c.230+1658G>A (SAA2) NP_001120852.1:n.230+1658G>A
NM_001199744.2:c.230+1658G>A (SAA2-SAA4) NP_001186673.1:n.230+1658G>A
NM_001385667.1:c.230+1658G>A (SAA2) NP_001372596.1:n.230+1658G>A
NM_001385672.1:c.230+1658G>A (SAA2) NP_001372601.1:n.230+1658G>A
NR_169749.1:n.300+1658G>A (SAA2)
NR_169750.1:n.161+3669G>A (SAA2)