Canonical Allele Identifier: CA9460229

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 281470
• ClinVar RCV Id: RCV000368498
• dbSNP Id: rs749611100
• ExAC: 19:41860637 G / A
• gnomAD v2: 19-41860637-G-A
• gnomAD v3: 19-41354732-G-A
• gnomAD v4: 19-41354732-G-A
• MyVariant Identifiers: chr19:g.41860637G>A (hg19) ; chr19:g.41354732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41354732G>A , CM000681.2:g.41354732G>A	GRCh38
NC_000019.9:g.41860637G>A , CM000681.1:g.41860637G>A	GRCh37
NC_000019.8:g.46552477G>A	NCBI36
NG_013091.1:g.14442C>T
NG_013364.1:g.4195C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.496C>T (B9D2) MANE Select	ENSP00000243578.2:p.Arg166Cys
ENST00000675972.1:c.496C>T (B9D2)	ENSP00000501911.1:p.Arg166Cys
ENST00000243578.7:c.496C>T (B9D2)	ENSP00000243578.2:p.Arg166Cys
ENST00000539627.5:c.-30+3530G>A (TMEM91)	ENSP00000441900.1:n.-30+3530G>A
ENST00000594416.1:c.*342C>T (B9D2)	ENSP00000469666.1:n.*342C>T
ENST00000604123.5:c.142+417G>A (TMEM91)	ENSP00000474871.1:n.142+417G>A
ENST00000604424.1:n.350+3530G>A
NM_030578.3:c.496C>T (B9D2)	NP_085055.2:p.Arg166Cys
XM_006723405.1:c.370C>T (B9D2)	XP_006723468.1:p.Arg124Cys
XM_011527349.1:c.496C>T (B9D2)	XP_011525651.1:p.Arg166Cys
XM_011527350.1:c.337C>T (B9D2)	XP_011525652.1:p.Arg113Cys
XM_011527349.2:c.496C>T (B9D2)	XP_011525651.1:p.Arg166Cys
XM_011527350.2:c.337C>T (B9D2)	XP_011525652.1:p.Arg113Cys
NM_030578.4:c.496C>T (B9D2) MANE Select	NP_085055.2:p.Arg166Cys