Canonical Allele Identifier: CA736441522

Gene: TRABD2B

Linked Data

• dbSNP Id: rs1241092307
• gnomAD v3: 1-47918042-G-C
• gnomAD v4: 1-47918042-G-C
• MyVariant Identifiers: chr1:g.48383714G>C (hg19) ; chr1:g.47918042G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47918042G>C , CM000663.2:g.47918042G>C	GRCh38
NC_000001.10:g.48383714G>C , CM000663.1:g.48383714G>C	GRCh37
NC_000001.9:g.48156301G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000606738.3:c.666+75992C>G MANE Select	ENSP00000476820.1:n.666+75992C>G
ENST00000435576.2:n.179+75992C>G
ENST00000606738.2:c.666+75992C>G	ENSP00000476820.1:n.666+75992C>G
NM_001194986.1:c.666+75992C>G	NP_001181915.1:n.666+75992C>G
XM_006710640.2:c.666+75992C>G	XP_006710703.1:n.666+75992C>G
XM_011541442.1:c.666+75992C>G	XP_011539744.1:n.666+75992C>G
XM_011541443.1:c.666+75992C>G	XP_011539745.1:n.666+75992C>G
XM_011541444.1:c.666+75992C>G	XP_011539746.1:n.666+75992C>G
XM_011541445.1:c.666+75992C>G	XP_011539747.1:n.666+75992C>G
XR_426606.2:n.1246+75992C>G
XR_946653.1:n.1247+75992C>G
XR_946654.1:n.1247+75992C>G
XM_006710640.4:c.666+75992C>G	XP_006710703.1:n.666+75992C>G
XM_011541443.3:c.666+75992C>G	XP_011539745.1:n.666+75992C>G
XM_011541444.2:c.666+75992C>G	XP_011539746.1:n.666+75992C>G
XM_011541445.3:c.666+75992C>G	XP_011539747.1:n.666+75992C>G
XM_017001260.2:c.666+75992C>G	XP_016856749.1:n.666+75992C>G
XM_017001261.2:c.666+75992C>G	XP_016856750.1:n.666+75992C>G
XM_017001262.2:c.666+75992C>G	XP_016856751.1:n.666+75992C>G
XM_024446933.1:c.666+75992C>G	XP_024302701.1:n.666+75992C>G
XM_024446935.1:c.666+75992C>G	XP_024302703.1:n.666+75992C>G
XR_946654.3:n.1244+75992C>G
NM_001194986.2:c.666+75992C>G MANE Select	NP_001181915.1:n.666+75992C>G