Canonical Allele Identifier: CA5909267

Gene: SAA2 SAA2-SAA4

Linked Data

• dbSNP Id: rs373197707
• ExAC: 11:18267004 C / A
• gnomAD v2: 11-18267004-C-A
• gnomAD v3: 11-18245457-C-A
• gnomAD v4: 11-18245457-C-A
• MyVariant Identifiers: chr11:g.18267004C>A (hg19) ; chr11:g.18245457C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18245457C>A , CM000673.2:g.18245457C>A	GRCh38
NC_000011.9:g.18267004C>A , CM000673.1:g.18267004C>A	GRCh37
NC_000011.8:g.18223580C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256733.9:c.289G>T (SAA2) MANE Select	ENSP00000256733.5:p.Asp97Tyr
ENST00000256733.8:c.289G>T (SAA2)	ENSP00000256733.4:p.Asp97Tyr
ENST00000414546.6:c.230+453G>T (SAA2)	ENSP00000416716.2:n.230+453G>T
ENST00000524555.3:c.230+453G>T (SAA2-SAA4)	ENSP00000485552.1:n.230+453G>T
ENST00000526900.1:c.289G>T (SAA2)	ENSP00000436126.1:p.Asp97Tyr
ENST00000528349.5:c.230+453G>T (SAA2)	ENSP00000435659.1:n.230+453G>T
ENST00000529528.5:c.289G>T (SAA2)	ENSP00000437162.1:p.Asp97Tyr
ENST00000530400.5:c.230+453G>T (SAA2)	ENSP00000432370.1:n.230+453G>T
NM_001127380.2:c.230+453G>T (SAA2)	NP_001120852.1:n.230+453G>T
NM_001199744.1:c.230+453G>T (SAA2-SAA4)	NP_001186673.1:n.230+453G>T
NM_030754.4:c.289G>T (SAA2)	NP_110381.2:p.Asp97Tyr
NM_001127380.3:c.230+453G>T (SAA2)	NP_001120852.1:n.230+453G>T
NM_001199744.2:c.230+453G>T (SAA2-SAA4)	NP_001186673.1:n.230+453G>T
NM_030754.5:c.289G>T (SAA2) MANE Select	NP_110381.2:p.Asp97Tyr
NM_001385666.1:c.289G>T (SAA2)	NP_001372595.1:p.Asp97Tyr
NM_001385667.1:c.230+453G>T (SAA2)	NP_001372596.1:n.230+453G>T
NM_001385668.1:c.150G>T (SAA2)	NP_001372597.1:p.Pro50=
NM_001385669.1:c.231-134G>T (SAA2)	NP_001372598.1:n.231-134G>T
NM_001385670.1:c.231-35G>T (SAA2)	NP_001372599.1:n.231-35G>T
NM_001385671.1:c.187G>T (SAA2)	NP_001372600.1:p.Asp63Tyr
NM_001385672.1:c.230+453G>T (SAA2)	NP_001372601.1:n.230+453G>T
NM_001385673.1:c.57G>T (SAA2)	NP_001372602.1:p.Pro19=
NR_169749.1:n.300+453G>T (SAA2)
NR_169750.1:n.161+2464G>T (SAA2)