Canonical Allele Identifier: CA747618

Gene: AZIN2

Linked Data

• dbSNP Id: rs16835244
• ExAC: 1:33562416 G / T
• gnomAD v2: 1-33562416-G-T
• gnomAD v3: 1-33096815-G-T
• gnomAD v4: 1-33096815-G-T
• MyVariant Identifiers: chr1:g.33562416G>T (hg19) ; chr1:g.33096815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.33096815G>T , CM000663.2:g.33096815G>T	GRCh38
NC_000001.10:g.33562416G>T , CM000663.1:g.33562416G>T	GRCh37
NC_000001.9:g.33335003G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294517.11:c.862G>T MANE Select	ENSP00000294517.6:p.Ala288Ser
ENST00000373440.6:c.388G>T	ENSP00000362539.2:p.Ala130Ser
ENST00000652171.1:c.*846G>T	ENSP00000498229.1:n.*846G>T
ENST00000652381.1:n.388G>T
ENST00000294517.10:c.862G>T	ENSP00000294517.6:p.Ala288Ser
ENST00000373440.5:c.388G>T	ENSP00000362539.1:p.Ala130Ser
ENST00000373441.1:c.862G>T	ENSP00000362540.1:p.Ala288Ser
ENST00000373443.7:c.862G>T	ENSP00000362542.3:p.Ala288Ser
ENST00000471119.5:n.937G>T
ENST00000473089.5:n.650G>T
ENST00000475935.5:n.1985G>T
ENST00000477570.5:n.833G>T
ENST00000478204.5:n.1842G>T
ENST00000481886.5:n.1118G>T
ENST00000484656.5:n.3052G>T
ENST00000492521.1:n.179G>T
NM_001293562.1:c.862G>T	NP_001280491.1:p.Ala288Ser
NM_001301823.1:c.577G>T	NP_001288752.1:p.Ala193Ser
NM_001301824.1:c.577G>T	NP_001288753.1:p.Ala193Ser
NM_001301825.1:c.862G>T	NP_001288754.1:p.Ala288Ser
NM_001301826.1:c.862G>T	NP_001288755.1:p.Ala288Ser
NM_052998.3:c.862G>T	NP_443724.1:p.Ala288Ser
NR_126031.1:n.971G>T
XM_005270404.1:c.862G>T	XP_005270461.1:p.Ala288Ser
XM_005270406.1:c.688G>T	XP_005270463.1:p.Ala230Ser
XM_005270407.1:c.577G>T	XP_005270464.1:p.Ala193Ser
XM_006710311.2:c.409G>T	XP_006710374.1:p.Ala137Ser
XM_006710312.1:c.409G>T	XP_006710375.1:p.Ala137Ser
XM_011540557.1:c.688G>T	XP_011538859.1:p.Ala230Ser
XM_011540558.1:c.862G>T	XP_011538860.1:p.Ala288Ser
XM_011540559.1:c.862G>T	XP_011538861.1:p.Ala288Ser
XM_011540560.1:c.862G>T	XP_011538862.1:p.Ala288Ser
XM_011540561.1:c.862G>T	XP_011538863.1:p.Ala288Ser
XM_011540562.1:c.862G>T	XP_011538864.1:p.Ala288Ser
XM_011540563.1:c.862G>T	XP_011538865.1:p.Ala288Ser
XM_011540564.1:c.862G>T	XP_011538866.1:p.Ala288Ser
XM_011540565.1:c.862G>T	XP_011538867.1:p.Ala288Ser
XM_011540566.1:c.862G>T	XP_011538868.1:p.Ala288Ser
XR_946531.1:n.1194G>T
NM_001350398.1:c.577G>T	NP_001337327.1:p.Ala193Ser
NM_001350399.1:c.577G>T	NP_001337328.1:p.Ala193Ser
NM_001350400.1:c.577G>T	NP_001337329.1:p.Ala193Ser
NM_001350401.1:c.577G>T	NP_001337330.1:p.Ala193Ser
NM_001350402.1:c.409G>T	NP_001337331.1:p.Ala137Ser
NR_146648.1:n.1439G>T
NR_146649.1:n.1271G>T
XM_005270404.2:c.862G>T	XP_005270461.1:p.Ala288Ser
XM_005270407.2:c.577G>T	XP_005270464.1:p.Ala193Ser
XM_017000167.1:c.862G>T	XP_016855656.1:p.Ala288Ser
XM_017000171.1:c.577G>T	XP_016855660.1:p.Ala193Ser
XM_017000173.2:c.577G>T	XP_016855662.1:p.Ala193Ser
XM_017000174.1:c.862G>T	XP_016855663.1:p.Ala288Ser
XM_017000175.1:c.577G>T	XP_016855664.1:p.Ala193Ser
XM_017000176.1:c.409G>T	XP_016855665.1:p.Ala137Ser
XM_017000178.1:c.409G>T	XP_016855667.1:p.Ala137Ser
XM_024452817.1:c.577G>T	XP_024308585.1:p.Ala193Ser
XM_024452818.1:c.577G>T	XP_024308586.1:p.Ala193Ser
XM_024452824.1:c.409G>T	XP_024308592.1:p.Ala137Ser
NM_052998.4:c.862G>T MANE Select	NP_443724.1:p.Ala288Ser
NM_001293562.2:c.862G>T	NP_001280491.1:p.Ala288Ser
NM_001301823.2:c.577G>T	NP_001288752.1:p.Ala193Ser
NM_001301824.2:c.577G>T	NP_001288753.1:p.Ala193Ser
NM_001350398.2:c.577G>T	NP_001337327.1:p.Ala193Ser
NM_001350399.2:c.577G>T	NP_001337328.1:p.Ala193Ser
NM_001350400.2:c.577G>T	NP_001337329.1:p.Ala193Ser
NM_001350401.2:c.577G>T	NP_001337330.1:p.Ala193Ser
NM_001376722.1:c.862G>T	NP_001363651.1:p.Ala288Ser
NM_001376724.1:c.862G>T	NP_001363653.1:p.Ala288Ser
NM_001376725.1:c.577G>T	NP_001363654.1:p.Ala193Ser
NM_001376727.1:c.577G>T	NP_001363656.1:p.Ala193Ser
NM_001376729.1:c.577G>T	NP_001363658.1:p.Ala193Ser
NM_001376730.1:c.688G>T	NP_001363659.1:p.Ala230Ser
NM_001376732.1:c.409G>T	NP_001363661.1:p.Ala137Ser
NR_146648.2:n.1415G>T
NR_146649.2:n.1231G>T