Canonical Allele Identifier: CA15766995

Gene: STAB2

Linked Data

• dbSNP Id: rs1650123
• gnomAD v2: 12-104034319-C-T
• gnomAD v3: 12-103640541-C-T
• gnomAD v4: 12-103640541-C-T
• MyVariant Identifiers: chr12:g.104034319C>T (hg19) ; chr12:g.103640541C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.103640541C>T , CM000674.2:g.103640541C>T	GRCh38
NC_000012.11:g.104034319C>T , CM000674.1:g.104034319C>T	GRCh37
NC_000012.10:g.102558449C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000388887.7:c.1040+285C>T MANE Select	ENSP00000373539.2:n.1040+285C>T
ENST00000388887.6:c.1040+285C>T	ENSP00000373539.2:n.1040+285C>T
NM_017564.9:c.1040+285C>T	NP_060034.9:n.1040+285C>T
XM_011538537.1:c.1040+285C>T	XP_011536839.1:n.1040+285C>T
XM_011538538.1:c.1040+285C>T	XP_011536840.1:n.1040+285C>T
XM_011538540.1:c.1040+285C>T	XP_011536842.1:n.1040+285C>T
XR_429107.2:n.1260+285C>T
XR_944609.1:n.1260+285C>T
XM_011538537.2:c.1040+285C>T	XP_011536839.1:n.1040+285C>T
XM_011538538.3:c.1040+285C>T	XP_011536840.1:n.1040+285C>T
XM_017019585.1:c.1040+285C>T	XP_016875074.1:n.1040+285C>T
XR_429107.3:n.1267+285C>T
NM_017564.10:c.1040+285C>T MANE Select	NP_060034.9:n.1040+285C>T