Canonical Allele Identifier: CA379495782

Gene: SAA2 SAA2-SAA4

Linked Data

• COSMIC: COSM3666230
• MyVariant Identifiers: chr11:g.18266957G>C (hg19) ; chr11:g.18245410G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.18245410G>C , CM000673.2:g.18245410G>C	GRCh38
NC_000011.9:g.18266957G>C , CM000673.1:g.18266957G>C	GRCh37
NC_000011.8:g.18223533G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256733.9:c.336C>G (SAA2) MANE Select	ENSP00000256733.5:p.His112Gln
ENST00000256733.8:c.336C>G (SAA2)	ENSP00000256733.4:p.His112Gln
ENST00000414546.6:c.230+500C>G (SAA2)	ENSP00000416716.2:n.230+500C>G
ENST00000524555.3:c.230+500C>G (SAA2-SAA4)	ENSP00000485552.1:n.230+500C>G
ENST00000526900.1:c.336C>G (SAA2)	ENSP00000436126.1:p.His112Gln
ENST00000528349.5:c.230+500C>G (SAA2)	ENSP00000435659.1:n.230+500C>G
ENST00000529528.5:c.336C>G (SAA2)	ENSP00000437162.1:p.His112Gln
ENST00000530400.5:c.230+500C>G (SAA2)	ENSP00000432370.1:n.230+500C>G
NM_001127380.2:c.230+500C>G (SAA2)	NP_001120852.1:n.230+500C>G
NM_001199744.1:c.230+500C>G (SAA2-SAA4)	NP_001186673.1:n.230+500C>G
NM_030754.4:c.336C>G (SAA2)	NP_110381.2:p.His112Gln
NM_001127380.3:c.230+500C>G (SAA2)	NP_001120852.1:n.230+500C>G
NM_001199744.2:c.230+500C>G (SAA2-SAA4)	NP_001186673.1:n.230+500C>G
NM_030754.5:c.336C>G (SAA2) MANE Select	NP_110381.2:p.His112Gln
NM_001385666.1:c.336C>G (SAA2)	NP_001372595.1:p.His112Gln
NM_001385667.1:c.230+500C>G (SAA2)	NP_001372596.1:n.230+500C>G
NM_001385668.1:c.197C>G (SAA2)	NP_001372597.1:p.Thr66Ser
NM_001385669.1:c.231-87C>G (SAA2)	NP_001372598.1:n.231-87C>G
NM_001385670.1:c.243C>G (SAA2)	NP_001372599.1:p.His81Gln
NM_001385671.1:c.234C>G (SAA2)	NP_001372600.1:p.His78Gln
NM_001385672.1:c.230+500C>G (SAA2)	NP_001372601.1:n.230+500C>G
NM_001385673.1:c.104C>G (SAA2)	NP_001372602.1:p.Thr35Ser
NR_169749.1:n.300+500C>G (SAA2)
NR_169750.1:n.161+2511C>G (SAA2)