Canonical Allele Identifier: CA379899568

Gene: HTATIP2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20383065A>C , CM000673.2:g.20383065A>C	GRCh38
NC_000011.9:g.20404611A>C , CM000673.1:g.20404611A>C	GRCh37
NC_000011.8:g.20361187A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001098522.2:c.589A>C MANE Select	NP_001091992.1:p.Ser197Arg
ENST00000451739.7:c.589A>C MANE Select	ENSP00000394259.2:p.Ser197Arg
NM_001098520.1:c.691A>C	NP_001091990.1:p.Ser231Arg
NM_001098520.2:c.691A>C	NP_001091990.1:p.Ser231Arg
NM_001098521.1:c.589A>C	NP_001091991.1:p.Ser197Arg
NM_001098521.2:c.589A>C	NP_001091991.1:p.Ser197Arg
NM_001098522.1:c.589A>C	NP_001091992.1:p.Ser197Arg
NM_006410.4:c.589A>C	NP_006401.3:p.Ser197Arg
NM_006410.5:c.589A>C	NP_006401.3:p.Ser197Arg
ENST00000419348.6:c.691A>C	ENSP00000392985.2:p.Ser231Arg
ENST00000421577.6:c.589A>C	ENSP00000397752.2:p.Ser197Arg
ENST00000443524.6:c.589A>C	ENSP00000387876.2:p.Ser197Arg
ENST00000451739.6:c.589A>C	ENSP00000394259.2:p.Ser197Arg
ENST00000531058.1:c.451A>C	ENSP00000436729.1:p.Ser151Arg
ENST00000533914.1:n.849A>C