Canonical Allele Identifier: CA8038818

Gene: GPT2

Linked Data

• dbSNP Id: rs772577662
• ExAC: 16:46956337 A / C
• gnomAD v2: 16-46956337-A-C
• gnomAD v3: 16-46922425-A-C
• gnomAD v4: 16-46922425-A-C
• MyVariant Identifiers: chr16:g.46956337A>C (hg19) ; chr16:g.46922425A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46922425A>C , CM000678.2:g.46922425A>C	GRCh38
NC_000016.9:g.46956337A>C , CM000678.1:g.46956337A>C	GRCh37
NC_000016.8:g.45513838A>C	NCBI36
NG_042110.1:g.43046A>C

Transcript Alleles

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