Canonical Allele Identifier: CA766242620
Gene: ATG16L1 HGNC NCBI

Linked Data

dbSNP Id: rs1184140302
MyVariant Identifiers: chr2:g.233275710C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.233275710C>G , CM000664.2:g.233275710C>G GRCh38
NC_000002.11:g.234184356C>G , CM000664.1:g.234184356C>G GRCh37
NC_000002.10:g.233849095C>G NCBI36
NG_023038.1:g.29140C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392017.9:c.954+932C>G MANE Select ENSP00000375872.4:n.954+932C>G
ENST00000347464.9:c.465+932C>G ENSP00000318259.6:n.465+932C>G
ENST00000373525.9:c.522+932C>G ENSP00000362625.5:n.522+932C>G
ENST00000392017.8:c.954+932C>G ENSP00000375872.4:n.954+932C>G
ENST00000392018.1:c.1005+932C>G ENSP00000375873.1:n.1005+932C>G
ENST00000392020.8:c.897+932C>G ENSP00000375875.4:n.897+932C>G
ENST00000392021.7:c.*835+932C>G ENSP00000375876.3:n.*835+932C>G
ENST00000419681.5:c.465+932C>G ENSP00000398773.1:n.465+932C>G
ENST00000464645.5:n.89+243C>G
ENST00000474148.5:n.1749+932C>G
ENST00000479942.5:n.1100+932C>G
ENST00000492298.5:n.475+932C>G
ENST00000498620.5:n.461+932C>G
NM_001190266.1:c.702+932C>G NP_001177195.1:n.702+932C>G
NM_001190267.1:c.606+932C>G NP_001177196.1:n.606+932C>G
NM_017974.3:c.897+932C>G NP_060444.3:n.897+932C>G
NM_030803.6:c.954+932C>G NP_110430.5:n.954+932C>G
NM_198890.2:c.465+932C>G NP_942593.2:n.465+932C>G
XM_005246082.1:c.1005+932C>G XP_005246139.1:n.1005+932C>G
XM_005246084.1:c.573+932C>G XP_005246141.1:n.573+932C>G
XM_005246086.1:c.522+932C>G XP_005246143.1:n.522+932C>G
XM_006712608.1:c.753+932C>G XP_006712671.1:n.753+932C>G
XR_241242.1:n.1199+932C>G
NM_001363742.1:c.1005+932C>G NP_001350671.1:n.1005+932C>G
XM_005246084.2:c.573+932C>G XP_005246141.1:n.573+932C>G
XM_005246086.2:c.522+932C>G XP_005246143.1:n.522+932C>G
XM_006712608.3:c.753+932C>G XP_006712671.1:n.753+932C>G
XR_001738801.2:n.1135+932C>G
XR_241242.3:n.1186+932C>G
NM_030803.7:c.954+932C>G MANE Select NP_110430.5:n.954+932C>G
NM_001190266.2:c.702+932C>G NP_001177195.1:n.702+932C>G
NM_001190267.2:c.606+932C>G NP_001177196.1:n.606+932C>G
NM_001363742.2:c.1005+932C>G NP_001350671.1:n.1005+932C>G
NM_017974.4:c.897+932C>G NP_060444.3:n.897+932C>G
NM_198890.3:c.465+932C>G NP_942593.2:n.465+932C>G