Canonical Allele Identifier: CA379496100

Gene: SAA2 SAA2-SAA4

Linked Data

• dbSNP Id: rs1857476727
• gnomAD v4: 11-18245452-C-A
• MyVariant Identifiers: chr11:g.18266999C>A (hg19) ; chr11:g.18245452C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18245452C>A , CM000673.2:g.18245452C>A	GRCh38
NC_000011.9:g.18266999C>A , CM000673.1:g.18266999C>A	GRCh37
NC_000011.8:g.18223575C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256733.9:c.294G>T (SAA2) MANE Select	ENSP00000256733.5:p.Gln98His
ENST00000256733.8:c.294G>T (SAA2)	ENSP00000256733.4:p.Gln98His
ENST00000414546.6:c.230+458G>T (SAA2)	ENSP00000416716.2:n.230+458G>T
ENST00000524555.3:c.230+458G>T (SAA2-SAA4)	ENSP00000485552.1:n.230+458G>T
ENST00000526900.1:c.294G>T (SAA2)	ENSP00000436126.1:p.Gln98His
ENST00000528349.5:c.230+458G>T (SAA2)	ENSP00000435659.1:n.230+458G>T
ENST00000529528.5:c.294G>T (SAA2)	ENSP00000437162.1:p.Gln98His
ENST00000530400.5:c.230+458G>T (SAA2)	ENSP00000432370.1:n.230+458G>T
NM_001127380.2:c.230+458G>T (SAA2)	NP_001120852.1:n.230+458G>T
NM_001199744.1:c.230+458G>T (SAA2-SAA4)	NP_001186673.1:n.230+458G>T
NM_030754.4:c.294G>T (SAA2)	NP_110381.2:p.Gln98His
NM_001127380.3:c.230+458G>T (SAA2)	NP_001120852.1:n.230+458G>T
NM_001199744.2:c.230+458G>T (SAA2-SAA4)	NP_001186673.1:n.230+458G>T
NM_030754.5:c.294G>T (SAA2) MANE Select	NP_110381.2:p.Gln98His
NM_001385666.1:c.294G>T (SAA2)	NP_001372595.1:p.Gln98His
NM_001385667.1:c.230+458G>T (SAA2)	NP_001372596.1:n.230+458G>T
NM_001385668.1:c.155G>T (SAA2)	NP_001372597.1:p.Arg52Met
NM_001385669.1:c.231-129G>T (SAA2)	NP_001372598.1:n.231-129G>T
NM_001385670.1:c.231-30G>T (SAA2)	NP_001372599.1:n.231-30G>T
NM_001385671.1:c.192G>T (SAA2)	NP_001372600.1:p.Gln64His
NM_001385672.1:c.230+458G>T (SAA2)	NP_001372601.1:n.230+458G>T
NM_001385673.1:c.62G>T (SAA2)	NP_001372602.1:p.Arg21Met
NR_169749.1:n.300+458G>T (SAA2)
NR_169750.1:n.161+2469G>T (SAA2)