Canonical Allele Identifier: CA395786343

Gene: GPT2

Linked Data

• MyVariant Identifiers: chr16:g.46956330T>G (hg19) ; chr16:g.46922418T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922418T>G , CM000678.2:g.46922418T>G	GRCh38
NC_000016.9:g.46956330T>G , CM000678.1:g.46956330T>G	GRCh37
NC_000016.8:g.45513831T>G	NCBI36
NG_042110.1:g.43039T>G

Transcript Alleles

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