Canonical Allele Identifier: CA8091059

Gene: GOT2

Linked Data

• ClinVar Variation Id: 1661265
• ClinVar RCV Id: RCV002190872
• dbSNP Id: rs200641525
• ExAC: 16:58753097 C / T
• gnomAD v2: 16-58753097-C-T
• gnomAD v3: 16-58719193-C-T
• gnomAD v4: 16-58719193-C-T
• MyVariant Identifiers: chr16:g.58753097C>T (hg19) ; chr16:g.58719193C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58719193C>T , CM000678.2:g.58719193C>T	GRCh38
NC_000016.9:g.58753097C>T , CM000678.1:g.58753097C>T	GRCh37
NC_000016.8:g.57310598C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245206.10:c.435+3G>A MANE Select	ENSP00000245206.5:n.435+3G>A
ENST00000245206.9:c.435+3G>A	ENSP00000245206.5:n.435+3G>A
ENST00000434819.2:c.306+3G>A	ENSP00000394100.2:n.306+3G>A
ENST00000496461.5:n.509+3G>A
ENST00000564400.5:n.549+3G>A
ENST00000568368.1:c.*129+3G>A	ENSP00000456205.1:n.*129+3G>A
NM_001286220.1:c.306+3G>A	NP_001273149.1:n.306+3G>A
NM_002080.3:c.435+3G>A	NP_002071.2:n.435+3G>A
NM_002080.4:c.435+3G>A MANE Select	NP_002071.2:n.435+3G>A
NM_001286220.2:c.306+3G>A	NP_001273149.1:n.306+3G>A