Canonical Allele Identifier: CA2633026034

Gene: GPT2

Linked Data

• gnomAD v4: 16-46922433-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922433G>T , CM000678.2:g.46922433G>T	GRCh38
NC_000016.9:g.46956345G>T , CM000678.1:g.46956345G>T	GRCh37
NC_000016.8:g.45513846G>T	NCBI36
NG_042110.1:g.43054G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000340124.9:c.1212+17G>T MANE Select	ENSP00000345282.4:n.1212+17G>T
ENST00000340124.8:c.1212+17G>T	ENSP00000345282.4:n.1212+17G>T
ENST00000440783.2:c.912+17G>T	ENSP00000413804.2:n.912+17G>T
ENST00000562801.5:n.1722+17G>T
NM_001142466.1:c.912+17G>T	NP_001135938.1:n.912+17G>T
NM_001142466.2:c.912+17G>T	NP_001135938.1:n.912+17G>T
NM_133443.2:c.1212+17G>T	NP_597700.1:n.1212+17G>T
NM_133443.3:c.1212+17G>T	NP_597700.1:n.1212+17G>T
XM_017023790.1:c.780+17G>T	XP_016879279.1:n.780+17G>T
NM_133443.4:c.1212+17G>T MANE Select	NP_597700.1:n.1212+17G>T
NM_001142466.3:c.912+17G>T	NP_001135938.1:n.912+17G>T