Canonical Allele Identifier: CA597036642

Gene: AP2A2

Linked Data

• dbSNP Id: rs1405775506
• gnomAD v2: 11-941853-G-A
• gnomAD v3: 11-941853-G-A
• gnomAD v4: 11-941853-G-A
• MyVariant Identifiers: chr11:g.941853G>A (hg19) ; chr11:g.941853G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.941853G>A , CM000673.2:g.941853G>A	GRCh38
NC_000011.9:g.941853G>A , CM000673.1:g.941853G>A	GRCh37
NC_000011.8:g.931853G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000527024.2:c.49+959G>A	ENSP00000434563.2:n.49+959G>A
ENST00000528195.6:c.67+15765G>A	ENSP00000510810.1:n.67+15765G>A
ENST00000529818.6:c.-162+16916G>A	ENSP00000509792.1:n.-162+16916G>A
ENST00000529858.6:n.209+15765G>A
ENST00000531548.6:c.-162+9076G>A	ENSP00000433498.2:n.-162+9076G>A
ENST00000534328.6:c.-358-14933G>A	ENSP00000436059.2:n.-358-14933G>A
ENST00000534485.6:c.-162+8256G>A	ENSP00000435756.2:n.-162+8256G>A
ENST00000687792.1:c.67+15765G>A	ENSP00000508951.1:n.67+15765G>A
ENST00000687890.1:c.67+15765G>A	ENSP00000510756.1:n.67+15765G>A
ENST00000693238.1:c.67+15765G>A	ENSP00000510648.1:n.67+15765G>A
ENST00000448903.7:c.67+15765G>A MANE Select	ENSP00000413234.3:n.67+15765G>A
ENST00000332231.9:c.67+15765G>A	ENSP00000327694.5:n.67+15765G>A
ENST00000448903.6:c.67+15765G>A	ENSP00000413234.2:n.67+15765G>A
ENST00000525796.5:c.-46+15853G>A	ENSP00000437228.1:n.-46+15853G>A
ENST00000527024.1:c.49+959G>A	ENSP00000434563.1:n.49+959G>A
ENST00000528195.5:n.144+15765G>A
ENST00000528815.5:c.67+15765G>A	ENSP00000431630.1:n.67+15765G>A
ENST00000529818.5:n.44+16916G>A
ENST00000529858.5:n.220-14933G>A
ENST00000531548.5:c.85+9076G>A	ENSP00000433498.1:n.85+9076G>A
ENST00000534328.5:c.67+15765G>A	ENSP00000436059.1:n.67+15765G>A
ENST00000534485.5:c.37+8256G>A	ENSP00000435756.1:n.37+8256G>A
NM_001242837.1:c.67+15765G>A	NP_001229766.1:n.67+15765G>A
NM_012305.3:c.67+15765G>A	NP_036437.1:n.67+15765G>A
XM_011519929.1:c.-162+8256G>A	XP_011518231.1:n.-162+8256G>A
XM_011519930.1:c.67+15765G>A	XP_011518232.1:n.67+15765G>A
XR_930847.1:n.241+15765G>A
NR_144509.1:n.280+15765G>A
NR_144510.1:n.280+15765G>A
XM_011519930.3:c.67+15765G>A	XP_011518232.1:n.67+15765G>A
NM_012305.4:c.67+15765G>A MANE Select	NP_036437.1:n.67+15765G>A
NR_144509.2:n.219+15765G>A
NR_144510.2:n.219+15765G>A
NM_001242837.2:c.67+15765G>A	NP_001229766.1:n.67+15765G>A