Canonical Allele Identifier: CA14232116

Gene: CIBAR2

Linked Data

• dbSNP Id: rs8050910
• gnomAD v2: 16-85139173-G-T
• gnomAD v3: 16-85105567-G-T
• gnomAD v4: 16-85105567-G-T
• MyVariant Identifiers: chr16:g.85139173G>T (hg19) ; chr16:g.85105567G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.85105567G>T , CM000678.2:g.85105567G>T	GRCh38
NC_000016.9:g.85139173G>T , CM000678.1:g.85139173G>T	GRCh37
NC_000016.8:g.83696674G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000539556.6:c.433-136C>A MANE Select	ENSP00000443411.1:n.433-136C>A
ENST00000539556.5:c.433-136C>A	ENSP00000443411.1:n.433-136C>A
ENST00000618669.3:c.150-136C>A
ENST00000629253.1:c.427-130C>A	ENSP00000487117.1:n.427-130C>A
NM_198491.2:c.433-136C>A	NP_940893.1:n.433-136C>A
XM_005255931.1:c.433-136C>A	XP_005255988.1:n.433-136C>A
XM_011523063.1:c.433-136C>A	XP_011521365.1:n.433-136C>A
NM_001366920.1:c.433-136C>A	NP_001353849.1:n.433-136C>A
XM_017023198.1:c.433-136C>A	XP_016878687.1:n.433-136C>A
NM_198491.3:c.433-136C>A MANE Select	NP_940893.1:n.433-136C>A