Canonical Allele Identifier: CA495010250

Gene: GPT2

Linked Data

• MyVariant Identifiers: chr16:g.46956328A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922416A>T , CM000678.2:g.46922416A>T	GRCh38
NC_000016.9:g.46956328A>T , CM000678.1:g.46956328A>T	GRCh37
NC_000016.8:g.45513829A>T	NCBI36
NG_042110.1:g.43037A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340124.9:c.1212A>T MANE Select	ENSP00000345282.4:p.Arg404=
ENST00000340124.8:c.1212A>T	ENSP00000345282.4:p.Arg404=
ENST00000440783.2:c.912A>T	ENSP00000413804.2:p.Arg304=
ENST00000562801.5:n.1722A>T
NM_001142466.1:c.912A>T	NP_001135938.1:p.Arg304=
NM_001142466.2:c.912A>T	NP_001135938.1:p.Arg304=
NM_133443.2:c.1212A>T	NP_597700.1:p.Arg404=
NM_133443.3:c.1212A>T	NP_597700.1:p.Arg404=
XM_017023790.1:c.780A>T	XP_016879279.1:p.Arg260=
NM_133443.4:c.1212A>T MANE Select	NP_597700.1:p.Arg404=
NM_001142466.3:c.912A>T	NP_001135938.1:p.Arg304=