Canonical Allele Identifier: CA2220108829
Gene: GPT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46922439_46922440delinsGC , CM000678.2:g.46922439_46922440delinsGC GRCh38
NC_000016.9:g.46956351_46956352delinsGC , CM000678.1:g.46956351_46956352delinsGC GRCh37
NC_000016.8:g.45513852_45513853delinsGC NCBI36
NG_042110.1:g.43060_43061delinsGC

Transcript Alleles

HGVS Amino-acid change
ENST00000340124.9:c.1212+23_1212+24delinsGC MANE Select ENSP00000345282.4:n.1212+23_1212+24delinsGC
ENST00000340124.8:c.1212+23_1212+24delinsGC ENSP00000345282.4:n.1212+23_1212+24delinsGC
ENST00000440783.2:c.912+23_912+24delinsGC ENSP00000413804.2:n.912+23_912+24delinsGC
ENST00000562801.5:n.1722+23_1722+24delinsGC
NM_001142466.1:c.912+23_912+24delinsGC NP_001135938.1:n.912+23_912+24delinsGC
NM_001142466.2:c.912+23_912+24delinsGC NP_001135938.1:n.912+23_912+24delinsGC
NM_133443.2:c.1212+23_1212+24delinsGC NP_597700.1:n.1212+23_1212+24delinsGC
NM_133443.3:c.1212+23_1212+24delinsGC NP_597700.1:n.1212+23_1212+24delinsGC
XM_017023790.1:c.780+23_780+24delinsGC XP_016879279.1:n.780+23_780+24delinsGC
NM_133443.4:c.1212+23_1212+24delinsGC MANE Select NP_597700.1:n.1212+23_1212+24delinsGC
NM_001142466.3:c.912+23_912+24delinsGC NP_001135938.1:n.912+23_912+24delinsGC