Canonical Allele Identifier: CA5920253
Gene: HTATIP2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.20383067T>G
GRCh37 chr11:g.20404613T>G
Revel Score:
ENST00000421577 0.020
ENST00000443524 0.020
ENST00000419348 0.020
ENST00000451739 (MANE Select) 0.020
ENST00000531058 0.020
gnomAD v2:
11:20404613 T / G
gnomAD v3:
11:20383067 T / G
gnomAD v4:
chr11-20383067-T-G
Joint Max Group AF 0.95016555 (NFE)
Genomes Max Group AF 0.94566199 (NFE)
Exomes Max Group AF 0.95011111 (NFE)
dbSNP:
3824886
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20383067T>G , CM000673.2:g.20383067T>G GRCh38
NC_000011.9:g.20404613T>G , CM000673.1:g.20404613T>G GRCh37
NC_000011.8:g.20361189T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000451739.7:c.591T>G MANE Select ENSP00000394259.2:p.Ser197Arg
ENST00000419348.6:c.693T>G ENSP00000392985.2:p.Ser231Arg
ENST00000421577.6:c.591T>G ENSP00000397752.2:p.Ser197Arg
ENST00000443524.6:c.591T>G ENSP00000387876.2:p.Ser197Arg
ENST00000451739.6:c.591T>G ENSP00000394259.2:p.Ser197Arg
ENST00000531058.1:c.453T>G ENSP00000436729.1:p.Ser151Arg
ENST00000533914.1:n.851T>G
NM_001098520.1:c.693T>G NP_001091990.1:p.Ser231Arg
NM_001098521.1:c.591T>G NP_001091991.1:p.Ser197Arg
NM_001098522.1:c.591T>G NP_001091992.1:p.Ser197Arg
NM_006410.4:c.591T>G NP_006401.3:p.Ser197Arg
NM_001098520.2:c.693T>G NP_001091990.1:p.Ser231Arg
NM_001098521.2:c.591T>G NP_001091991.1:p.Ser197Arg
NM_001098522.2:c.591T>G MANE Select NP_001091992.1:p.Ser197Arg
NM_006410.5:c.591T>G NP_006401.3:p.Ser197Arg
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