Canonical Allele Identifier: CA2160166

Gene: ARMC9

Linked Data

• ClinVar Variation Id: 427937
• ClinVar RCV Id: RCV000491361 ; RCV000515495 ; RCV001034535
• dbSNP Id: rs759799287
• ExAC: 2:232127019 C / A
• gnomAD v2: 2-232127019-C-A
• gnomAD v4: 2-231262306-C-A
• MyVariant Identifiers: chr2:g.232127019C>A (hg19) ; chr2:g.231262306C>A (hg38)
• PubMed: PMID:28625504

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231262306C>A , CM000664.2:g.231262306C>A	GRCh38
NC_000002.11:g.232127019C>A , CM000664.1:g.232127019C>A	GRCh37
NC_000002.10:g.231835263C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436339.6:c.1027C>A	ENSP00000392086.2:p.Arg343Ser
ENST00000469789.2:n.787C>A
ENST00000682002.1:c.928C>A	ENSP00000507152.1:p.Arg310Ser
ENST00000682030.1:c.1024C>A	ENSP00000508117.1:p.Arg342Ser
ENST00000682100.1:c.1024C>A	ENSP00000507066.1:p.Arg342Ser
ENST00000682264.1:c.*71C>A	ENSP00000507212.1:n.*71C>A
ENST00000682334.1:c.1027C>A	ENSP00000507763.1:p.Arg343Ser
ENST00000682367.1:c.1024C>A	ENSP00000507235.1:p.Arg342Ser
ENST00000683040.1:c.1027C>A	ENSP00000507817.1:p.Arg343Ser
ENST00000683063.1:c.901C>A	ENSP00000507407.1:p.Arg301Ser
ENST00000683107.1:n.2760C>A
ENST00000683112.1:c.1048C>A	ENSP00000507357.1:p.Arg350Ser
ENST00000683165.1:n.1173C>A
ENST00000683271.1:c.928C>A	ENSP00000507513.1:p.Arg310Ser
ENST00000683275.1:c.1027C>A	ENSP00000506823.1:p.Arg343Ser
ENST00000683321.1:c.1027C>A	ENSP00000508154.1:p.Arg343Ser
ENST00000683520.1:n.615C>A
ENST00000683553.1:c.880C>A	ENSP00000506860.1:p.Arg294Ser
ENST00000683575.1:c.1027C>A	ENSP00000507743.1:p.Arg343Ser
ENST00000683629.1:c.1027C>A	ENSP00000507960.1:p.Arg343Ser
ENST00000683702.1:c.1027C>A	ENSP00000507686.1:p.Arg343Ser
ENST00000683814.1:n.1338C>A
ENST00000683966.1:c.1024C>A	ENSP00000507325.1:p.Arg342Ser
ENST00000684011.1:n.1132C>A
ENST00000684051.1:c.1027C>A	ENSP00000507854.1:p.Arg343Ser
ENST00000684368.1:c.*2228C>A	ENSP00000508353.1:n.*2228C>A
ENST00000684432.1:c.1027C>A	ENSP00000508405.1:p.Arg343Ser
ENST00000684565.1:c.1027C>A	ENSP00000507599.1:p.Arg343Ser
ENST00000684718.1:c.1027C>A	ENSP00000507543.1:p.Arg343Ser
ENST00000611582.5:c.1027C>A MANE Select	ENSP00000484804.1:p.Arg343Ser
ENST00000349938.8:c.1027C>A	ENSP00000258417.5:p.Arg343Ser
ENST00000424740.5:c.135C>A
ENST00000436339.5:c.178C>A	ENSP00000392086.1:p.Arg60Ser
ENST00000467698.5:n.139C>A
ENST00000611582.4:c.1027C>A	ENSP00000484804.1:p.Arg343Ser
ENST00000614261.4:c.1027C>A	ENSP00000484241.1:p.Arg343Ser
NM_001271466.2:c.1027C>A	NP_001258395.1:p.Arg343Ser
NM_001291656.1:c.1027C>A	NP_001278585.1:p.Arg343Ser
NM_025139.5:c.1027C>A	NP_079415.3:p.Arg343Ser
XM_011511905.1:c.1027C>A	XP_011510207.1:p.Arg343Ser
XM_011511906.1:c.1027C>A	XP_011510208.1:p.Arg343Ser
XM_011511907.1:c.928C>A	XP_011510209.1:p.Arg310Ser
XM_011511908.1:c.1027C>A	XP_011510210.1:p.Arg343Ser
XM_011511909.1:c.1027C>A	XP_011510211.1:p.Arg343Ser
XM_011511910.1:c.1027C>A	XP_011510212.1:p.Arg343Ser
XM_011511911.1:c.1027C>A	XP_011510213.1:p.Arg343Ser
XM_011511912.1:c.1027C>A	XP_011510214.1:p.Arg343Ser
XM_011511913.1:c.1027C>A	XP_011510215.1:p.Arg343Ser
XM_011511914.1:c.1027C>A	XP_011510216.1:p.Arg343Ser
XM_011511915.1:c.1027C>A	XP_011510217.1:p.Arg343Ser
XM_011511916.1:c.1027C>A	XP_011510218.1:p.Arg343Ser
XM_011511917.1:c.1027C>A	XP_011510219.1:p.Arg343Ser
XM_011511918.1:c.1027C>A	XP_011510220.1:p.Arg343Ser
XM_011511920.1:c.1027C>A	XP_011510222.1:p.Arg343Ser
XR_923031.1:n.1139C>A
XR_923032.1:n.1139C>A
NM_001271466.3:c.1027C>A	NP_001258395.1:p.Arg343Ser
NM_001352754.1:c.1027C>A	NP_001339683.1:p.Arg343Ser
NM_001352755.1:c.1027C>A	NP_001339684.1:p.Arg343Ser
NM_001352756.1:c.1027C>A	NP_001339685.1:p.Arg343Ser
NM_001352757.1:c.928C>A	NP_001339686.1:p.Arg310Ser
NM_001352758.1:c.928C>A	NP_001339687.1:p.Arg310Ser
NM_001352759.1:c.1027C>A	NP_001339688.1:p.Arg343Ser
NR_148040.1:n.1221C>A
XM_011511908.2:c.1027C>A	XP_011510210.1:p.Arg343Ser
XM_011511909.2:c.1027C>A	XP_011510211.1:p.Arg343Ser
XM_011511913.2:c.1027C>A	XP_011510215.1:p.Arg343Ser
XM_011511914.2:c.1027C>A	XP_011510216.1:p.Arg343Ser
XM_011511915.2:c.1027C>A	XP_011510217.1:p.Arg343Ser
XM_011511916.2:c.1027C>A	XP_011510218.1:p.Arg343Ser
XM_017005021.1:c.1027C>A	XP_016860510.1:p.Arg343Ser
XM_017005022.1:c.1027C>A	XP_016860511.1:p.Arg343Ser
XM_017005024.1:c.928C>A	XP_016860513.1:p.Arg310Ser
XM_017005025.1:c.1027C>A	XP_016860514.1:p.Arg343Ser
NM_001271466.4:c.1027C>A	NP_001258395.2:p.Arg343Ser
NM_001291656.2:c.1027C>A	NP_001278585.2:p.Arg343Ser
NM_001352754.2:c.1027C>A MANE Select	NP_001339683.2:p.Arg343Ser
NM_001352755.2:c.1027C>A	NP_001339684.2:p.Arg343Ser
NM_001352756.2:c.1027C>A	NP_001339685.2:p.Arg343Ser
NM_001352757.2:c.928C>A	NP_001339686.2:p.Arg310Ser
NM_001352758.2:c.928C>A	NP_001339687.2:p.Arg310Ser
NM_001352759.2:c.1027C>A	NP_001339688.2:p.Arg343Ser
NM_025139.6:c.1027C>A	NP_079415.4:p.Arg343Ser
NR_148040.2:n.1136C>A