Canonical Allele Identifier: CA7197373

Gene: TBPL2

Linked Data

• ClinVar Variation Id: 711948
• ClinVar RCV Id: RCV000883787
• dbSNP Id: rs78201646
• ExAC: 14:55895533 C / T
• gnomAD v2: 14-55895533-C-T
• gnomAD v3: 14-55428815-C-T
• gnomAD v4: 14-55428815-C-T
• MyVariant Identifiers: chr14:g.55895533C>T (hg19) ; chr14:g.55428815C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.55428815C>T , CM000676.2:g.55428815C>T	GRCh38
NC_000014.8:g.55895533C>T , CM000676.1:g.55895533C>T	GRCh37
NC_000014.7:g.54965286C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247219.6:c.852G>A MANE Select	ENSP00000247219.6:p.Gln284=
ENST00000247219.5:c.948G>A	ENSP00000247219.5:p.Gln316=
NM_199047.2:c.948G>A	NP_950248.1:p.Gln316=
XR_001750769.1:n.984+4731C>T
NM_199047.3:c.852G>A MANE Select	NP_950248.2:p.Gln284=