Canonical Allele Identifier: CA995965456

Gene: B9D2 TMEM91

Linked Data

• dbSNP Id: rs2038299379
• gnomAD v3: 19-41355524-T-C
• gnomAD v4: 19-41355524-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355524T>C , CM000681.2:g.41355524T>C	GRCh38
NC_000019.9:g.41861429T>C , CM000681.1:g.41861429T>C	GRCh37
NC_000019.8:g.46553269T>C	NCBI36
NG_013091.1:g.13650A>G
NG_013364.1:g.3403A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000243578.8:c.215-511A>G (B9D2) MANE Select	ENSP00000243578.2:n.215-511A>G
ENST00000675972.1:c.215-511A>G (B9D2)	ENSP00000501911.1:n.215-511A>G
ENST00000243578.7:c.215-511A>G (B9D2)	ENSP00000243578.2:n.215-511A>G
ENST00000539627.5:c.-30+4322T>C (TMEM91)	ENSP00000441900.1:n.-30+4322T>C
ENST00000594416.1:c.*61-511A>G (B9D2)	ENSP00000469666.1:n.*61-511A>G
ENST00000604123.5:c.142+1209T>C (TMEM91)	ENSP00000474871.1:n.142+1209T>C
ENST00000604424.1:n.350+4322T>C
NM_030578.3:c.215-511A>G (B9D2)	NP_085055.2:n.215-511A>G
XM_006723405.1:c.89-511A>G (B9D2)	XP_006723468.1:n.89-511A>G
XM_011527349.1:c.215-511A>G (B9D2)	XP_011525651.1:n.215-511A>G
XM_011527350.1:c.56-511A>G (B9D2)	XP_011525652.1:n.56-511A>G
XM_011527349.2:c.215-511A>G (B9D2)	XP_011525651.1:n.215-511A>G
XM_011527350.2:c.56-511A>G (B9D2)	XP_011525652.1:n.56-511A>G
NM_030578.4:c.215-511A>G (B9D2) MANE Select	NP_085055.2:n.215-511A>G