Canonical Allele Identifier: CA8038817

Gene: GPT2

Linked Data

• dbSNP Id: rs762111947
• ExAC: 16:46956335 C / A
• gnomAD v2: 16-46956335-C-A
• gnomAD v4: 16-46922423-C-A
• MyVariant Identifiers: chr16:g.46956335C>A (hg19) ; chr16:g.46922423C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922423C>A , CM000678.2:g.46922423C>A	GRCh38
NC_000016.9:g.46956335C>A , CM000678.1:g.46956335C>A	GRCh37
NC_000016.8:g.45513836C>A	NCBI36
NG_042110.1:g.43044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340124.9:c.1212+7C>A MANE Select	ENSP00000345282.4:n.1212+7C>A
ENST00000340124.8:c.1212+7C>A	ENSP00000345282.4:n.1212+7C>A
ENST00000440783.2:c.912+7C>A	ENSP00000413804.2:n.912+7C>A
ENST00000562801.5:n.1722+7C>A
NM_001142466.1:c.912+7C>A	NP_001135938.1:n.912+7C>A
NM_001142466.2:c.912+7C>A	NP_001135938.1:n.912+7C>A
NM_133443.2:c.1212+7C>A	NP_597700.1:n.1212+7C>A
NM_133443.3:c.1212+7C>A	NP_597700.1:n.1212+7C>A
XM_017023790.1:c.780+7C>A	XP_016879279.1:n.780+7C>A
NM_133443.4:c.1212+7C>A MANE Select	NP_597700.1:n.1212+7C>A
NM_001142466.3:c.912+7C>A	NP_001135938.1:n.912+7C>A