Canonical Allele Identifier: CA13705205

Gene: ANO2

Linked Data

• dbSNP Id: rs7307889
• gnomAD v2: 12-5981353-C-T
• gnomAD v3: 12-5872187-C-T
• gnomAD v4: 12-5872187-C-T
• MyVariant Identifiers: chr12:g.5981353C>T (hg19) ; chr12:g.5872187C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.5872187C>T , CM000674.2:g.5872187C>T	GRCh38
NC_000012.11:g.5981353C>T , CM000674.1:g.5981353C>T	GRCh37
NC_000012.10:g.5851614C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000682330.1:c.535-18046G>A MANE Select	ENSP00000507275.1:n.535-18046G>A
ENST00000650848.1:c.535-18046G>A	ENSP00000498903.1:n.535-18046G>A
ENST00000327087.12:c.523-18046G>A	ENSP00000314048.9:n.523-18046G>A
ENST00000356134.9:c.523-18046G>A	ENSP00000348453.5:n.523-18046G>A
ENST00000541487.1:n.28+9592G>A
ENST00000546188.5:c.535-18046G>A	ENSP00000440981.2:n.535-18046G>A
NM_001278596.1:c.535-18046G>A	NP_001265525.1:n.535-18046G>A
NM_001278597.1:c.523-18046G>A	NP_001265526.1:n.523-18046G>A
XM_006718988.2:c.535-18046G>A	XP_006719051.1:n.535-18046G>A
XM_011520975.1:c.523-18046G>A	XP_011519277.1:n.523-18046G>A
XM_011520976.1:c.418-18046G>A	XP_011519278.1:n.418-18046G>A
XR_931519.1:n.867-18046G>A
NM_001278596.2:c.535-18046G>A	NP_001265525.1:n.535-18046G>A
NM_001278597.2:c.523-18046G>A	NP_001265526.1:n.523-18046G>A
NM_001364791.1:c.535-18046G>A	NP_001351720.1:n.535-18046G>A
XM_011520975.2:c.523-18046G>A	XP_011519277.1:n.523-18046G>A
XM_017019672.2:c.535-18046G>A	XP_016875161.1:n.535-18046G>A
XM_024449073.1:c.418-18046G>A	XP_024304841.1:n.418-18046G>A
XR_002957363.1:n.4108-18046G>A
XR_931519.2:n.4108-18046G>A
NM_001278596.3:c.535-18046G>A	NP_001265525.1:n.535-18046G>A
NM_001278597.3:c.523-18046G>A	NP_001265526.1:n.523-18046G>A
NM_001364791.2:c.535-18046G>A MANE Select	NP_001351720.1:n.535-18046G>A