Canonical Allele Identifier: CA379496169

Gene: SAA2 SAA2-SAA4

Linked Data

• dbSNP Id: rs1857477362
• gnomAD v3: 11-18245460-C-T
• gnomAD v4: 11-18245460-C-T
• MyVariant Identifiers: chr11:g.18267007C>T (hg19) ; chr11:g.18245460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18245460C>T , CM000673.2:g.18245460C>T	GRCh38
NC_000011.9:g.18267007C>T , CM000673.1:g.18267007C>T	GRCh37
NC_000011.8:g.18223583C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256733.9:c.286G>A (SAA2) MANE Select	ENSP00000256733.5:p.Ala96Thr
ENST00000256733.8:c.286G>A (SAA2)	ENSP00000256733.4:p.Ala96Thr
ENST00000414546.6:c.230+450G>A (SAA2)	ENSP00000416716.2:n.230+450G>A
ENST00000524555.3:c.230+450G>A (SAA2-SAA4)	ENSP00000485552.1:n.230+450G>A
ENST00000526900.1:c.286G>A (SAA2)	ENSP00000436126.1:p.Ala96Thr
ENST00000528349.5:c.230+450G>A (SAA2)	ENSP00000435659.1:n.230+450G>A
ENST00000529528.5:c.286G>A (SAA2)	ENSP00000437162.1:p.Ala96Thr
ENST00000530400.5:c.230+450G>A (SAA2)	ENSP00000432370.1:n.230+450G>A
NM_001127380.2:c.230+450G>A (SAA2)	NP_001120852.1:n.230+450G>A
NM_001199744.1:c.230+450G>A (SAA2-SAA4)	NP_001186673.1:n.230+450G>A
NM_030754.4:c.286G>A (SAA2)	NP_110381.2:p.Ala96Thr
NM_001127380.3:c.230+450G>A (SAA2)	NP_001120852.1:n.230+450G>A
NM_001199744.2:c.230+450G>A (SAA2-SAA4)	NP_001186673.1:n.230+450G>A
NM_030754.5:c.286G>A (SAA2) MANE Select	NP_110381.2:p.Ala96Thr
NM_001385666.1:c.286G>A (SAA2)	NP_001372595.1:p.Ala96Thr
NM_001385667.1:c.230+450G>A (SAA2)	NP_001372596.1:n.230+450G>A
NM_001385668.1:c.147G>A (SAA2)	NP_001372597.1:p.Trp49Ter
NM_001385669.1:c.231-137G>A (SAA2)	NP_001372598.1:n.231-137G>A
NM_001385670.1:c.231-38G>A (SAA2)	NP_001372599.1:n.231-38G>A
NM_001385671.1:c.184G>A (SAA2)	NP_001372600.1:p.Ala62Thr
NM_001385672.1:c.230+450G>A (SAA2)	NP_001372601.1:n.230+450G>A
NM_001385673.1:c.54G>A (SAA2)	NP_001372602.1:p.Trp18Ter
NR_169749.1:n.300+450G>A (SAA2)
NR_169750.1:n.161+2461G>A (SAA2)