Canonical Allele Identifier: CA15760022

Gene: ANO2

Linked Data

• dbSNP Id: rs12579350
• gnomAD v2: 12-5797101-G-A
• gnomAD v3: 12-5687935-G-A
• gnomAD v4: 12-5687935-G-A
• MyVariant Identifiers: chr12:g.5797101G>A (hg19) ; chr12:g.5687935G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5687935G>A , CM000674.2:g.5687935G>A	GRCh38
NC_000012.11:g.5797101G>A , CM000674.1:g.5797101G>A	GRCh37
NC_000012.10:g.5667362G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682330.1:c.1546-40134C>T MANE Select	ENSP00000507275.1:n.1546-40134C>T
ENST00000650848.1:c.1561-40134C>T	ENSP00000498903.1:n.1561-40134C>T
ENST00000327087.12:c.1549-40134C>T	ENSP00000314048.9:n.1549-40134C>T
ENST00000356134.9:c.1549-40134C>T	ENSP00000348453.5:n.1549-40134C>T
ENST00000538154.5:n.615-40134C>T
ENST00000542326.5:n.427-40134C>T
ENST00000545860.1:c.226-40134C>T	ENSP00000443813.1:n.226-40134C>T
ENST00000546188.5:c.1561-40134C>T	ENSP00000440981.2:n.1561-40134C>T
NM_001278596.1:c.1561-40134C>T	NP_001265525.1:n.1561-40134C>T
NM_001278597.1:c.1549-40134C>T	NP_001265526.1:n.1549-40134C>T
XM_006718988.2:c.1546-40134C>T	XP_006719051.1:n.1546-40134C>T
XM_006718990.2:c.190-40134C>T	XP_006719053.1:n.190-40134C>T
XM_006718991.2:c.190-40134C>T	XP_006719054.1:n.190-40134C>T
XM_011520975.1:c.1534-40134C>T	XP_011519277.1:n.1534-40134C>T
XM_011520976.1:c.1429-40134C>T	XP_011519278.1:n.1429-40134C>T
XM_011520977.1:c.1015-40134C>T	XP_011519279.1:n.1015-40134C>T
XM_011520978.1:c.913-40134C>T	XP_011519280.1:n.913-40134C>T
XM_011520979.1:c.361-40134C>T	XP_011519281.1:n.361-40134C>T
XM_011520980.1:c.349-40134C>T	XP_011519282.1:n.349-40134C>T
XM_011520981.1:c.349-40134C>T	XP_011519283.1:n.349-40134C>T
XM_011520982.1:c.319-40134C>T	XP_011519284.1:n.319-40134C>T
XM_011520983.1:c.229-40134C>T	XP_011519285.1:n.229-40134C>T
XM_011520984.1:c.211-40134C>T	XP_011519286.1:n.211-40134C>T
XM_011520985.1:c.190-40134C>T	XP_011519287.1:n.190-40134C>T
XR_931519.1:n.1878-40134C>T
NM_001278596.2:c.1561-40134C>T	NP_001265525.1:n.1561-40134C>T
NM_001278597.2:c.1549-40134C>T	NP_001265526.1:n.1549-40134C>T
NM_001364791.1:c.1546-40134C>T	NP_001351720.1:n.1546-40134C>T
XM_011520975.2:c.1534-40134C>T	XP_011519277.1:n.1534-40134C>T
XM_011520978.3:c.913-40134C>T	XP_011519280.1:n.913-40134C>T
XM_017019672.2:c.1546-40134C>T	XP_016875161.1:n.1546-40134C>T
XM_024449073.1:c.1429-40134C>T	XP_024304841.1:n.1429-40134C>T
XM_024449074.1:c.361-40134C>T	XP_024304842.1:n.361-40134C>T
XM_024449075.1:c.349-40134C>T	XP_024304843.1:n.349-40134C>T
XM_024449076.1:c.349-40134C>T	XP_024304844.1:n.349-40134C>T
XM_024449077.1:c.319-40134C>T	XP_024304845.1:n.319-40134C>T
XM_024449078.1:c.229-40134C>T	XP_024304846.1:n.229-40134C>T
XM_024449079.1:c.211-40134C>T	XP_024304847.1:n.211-40134C>T
XM_024449080.1:c.190-40134C>T	XP_024304848.1:n.190-40134C>T
XM_024449081.1:c.190-40134C>T	XP_024304849.1:n.190-40134C>T
XM_024449082.1:c.190-40134C>T	XP_024304850.1:n.190-40134C>T
XR_002957363.1:n.5119-40134C>T
XR_931519.2:n.5119-40134C>T
NM_001278596.3:c.1561-40134C>T	NP_001265525.1:n.1561-40134C>T
NM_001278597.3:c.1549-40134C>T	NP_001265526.1:n.1549-40134C>T
NM_001364791.2:c.1546-40134C>T MANE Select	NP_001351720.1:n.1546-40134C>T