Canonical Allele Identifier: CA232281197
Gene: ANO2 HGNC NCBI

Linked Data

dbSNP Id: rs2110166
gnomAD v2: 12-5751342-C-T
gnomAD v3: 12-5642176-C-T
gnomAD v4: 12-5642176-C-T
MyVariant Identifiers: chr12:g.5751342C>T (hg19) chr12:g.5642176C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.5642176C>T , CM000674.2:g.5642176C>T GRCh38
NC_000012.11:g.5751342C>T , CM000674.1:g.5751342C>T GRCh37
NC_000012.10:g.5621603C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000682330.1:c.1620+5551G>A MANE Select ENSP00000507275.1:n.1620+5551G>A
ENST00000650848.1:c.1635+5551G>A ENSP00000498903.1:n.1635+5551G>A
ENST00000327087.12:c.1623+5551G>A ENSP00000314048.9:n.1623+5551G>A
ENST00000356134.9:c.1623+5551G>A ENSP00000348453.5:n.1623+5551G>A
ENST00000538154.5:n.689+5551G>A
ENST00000542326.5:n.501+5551G>A
ENST00000545860.1:c.300+5551G>A ENSP00000443813.1:n.300+5551G>A
ENST00000546188.5:c.1635+5551G>A ENSP00000440981.2:n.1635+5551G>A
NM_001278596.1:c.1635+5551G>A NP_001265525.1:n.1635+5551G>A
NM_001278597.1:c.1623+5551G>A NP_001265526.1:n.1623+5551G>A
XM_006718988.2:c.1620+5551G>A XP_006719051.1:n.1620+5551G>A
XM_006718990.2:c.264+5551G>A XP_006719053.1:n.264+5551G>A
XM_006718991.2:c.264+5551G>A XP_006719054.1:n.264+5551G>A
XM_011520975.1:c.1608+5551G>A XP_011519277.1:n.1608+5551G>A
XM_011520976.1:c.1503+5551G>A XP_011519278.1:n.1503+5551G>A
XM_011520977.1:c.1089+5551G>A XP_011519279.1:n.1089+5551G>A
XM_011520978.1:c.987+5551G>A XP_011519280.1:n.987+5551G>A
XM_011520979.1:c.435+5551G>A XP_011519281.1:n.435+5551G>A
XM_011520980.1:c.423+5551G>A XP_011519282.1:n.423+5551G>A
XM_011520981.1:c.423+5551G>A XP_011519283.1:n.423+5551G>A
XM_011520982.1:c.393+5551G>A XP_011519284.1:n.393+5551G>A
XM_011520983.1:c.303+5551G>A XP_011519285.1:n.303+5551G>A
XM_011520984.1:c.285+5551G>A XP_011519286.1:n.285+5551G>A
XM_011520985.1:c.264+5551G>A XP_011519287.1:n.264+5551G>A
XR_931519.1:n.1952+5551G>A
NM_001278596.2:c.1635+5551G>A NP_001265525.1:n.1635+5551G>A
NM_001278597.2:c.1623+5551G>A NP_001265526.1:n.1623+5551G>A
NM_001364791.1:c.1620+5551G>A NP_001351720.1:n.1620+5551G>A
XM_011520975.2:c.1608+5551G>A XP_011519277.1:n.1608+5551G>A
XM_011520978.3:c.987+5551G>A XP_011519280.1:n.987+5551G>A
XM_017019672.2:c.1620+5551G>A XP_016875161.1:n.1620+5551G>A
XM_024449073.1:c.1503+5551G>A XP_024304841.1:n.1503+5551G>A
XM_024449074.1:c.435+5551G>A XP_024304842.1:n.435+5551G>A
XM_024449075.1:c.423+5551G>A XP_024304843.1:n.423+5551G>A
XM_024449076.1:c.423+5551G>A XP_024304844.1:n.423+5551G>A
XM_024449077.1:c.393+5551G>A XP_024304845.1:n.393+5551G>A
XM_024449078.1:c.303+5551G>A XP_024304846.1:n.303+5551G>A
XM_024449079.1:c.285+5551G>A XP_024304847.1:n.285+5551G>A
XM_024449080.1:c.264+5551G>A XP_024304848.1:n.264+5551G>A
XM_024449081.1:c.264+5551G>A XP_024304849.1:n.264+5551G>A
XM_024449082.1:c.264+5551G>A XP_024304850.1:n.264+5551G>A
XR_002957363.1:n.5193+5551G>A
XR_931519.2:n.5193+5551G>A
NM_001278596.3:c.1635+5551G>A NP_001265525.1:n.1635+5551G>A
NM_001278597.3:c.1623+5551G>A NP_001265526.1:n.1623+5551G>A
NM_001364791.2:c.1620+5551G>A MANE Select NP_001351720.1:n.1620+5551G>A
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