Canonical Allele Identifier: CA263037995

Gene: SYNJ2BP SYNJ2BP-COX16

Linked Data

• dbSNP Id: rs79453358
• gnomAD v2: 14-70881456-G-A
• gnomAD v3: 14-70414739-G-A
• gnomAD v4: 14-70414739-G-A
• MyVariant Identifiers: chr14:g.70881456G>A (hg19) ; chr14:g.70414739G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.70414739G>A , CM000676.2:g.70414739G>A	GRCh38
NC_000014.8:g.70881456G>A , CM000676.1:g.70881456G>A	GRCh37
NC_000014.7:g.69951209G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000256366.6:c.64+2161C>T (SYNJ2BP) MANE Select	ENSP00000256366.4:n.64+2161C>T
ENST00000256366.5:c.64+2161C>T (SYNJ2BP)	ENSP00000256366.4:n.64+2161C>T
ENST00000554216.1:n.162+2161C>T (SYNJ2BP)
ENST00000555276.5:c.-73+2161C>T (SYNJ2BP-COX16)	ENSP00000480746.1:n.-73+2161C>T
ENST00000617124.4:c.64+2161C>T (SYNJ2BP-COX16)	ENSP00000484161.1:n.64+2161C>T
ENST00000617196.4:c.64+2161C>T (SYNJ2BP-COX16)	ENSP00000478757.1:n.64+2161C>T
ENST00000618385.1:c.64+2161C>T (SYNJ2BP-COX16)	ENSP00000477705.1:n.64+2161C>T
ENST00000621525.4:c.64+2161C>T (SYNJ2BP-COX16)	ENSP00000482133.1:n.64+2161C>T
NM_001202547.2:c.64+2161C>T (SYNJ2BP-COX16)	NP_001189476.1:n.64+2161C>T
NM_001202548.2:c.64+2161C>T (SYNJ2BP-COX16)	NP_001189477.1:n.64+2161C>T
NM_001202549.2:c.64+2161C>T (SYNJ2BP-COX16)	NP_001189478.1:n.64+2161C>T
NM_018373.2:c.64+2161C>T (SYNJ2BP)	NP_060843.2:n.64+2161C>T
NM_018373.3:c.64+2161C>T (SYNJ2BP) MANE Select	NP_060843.2:n.64+2161C>T