Canonical Allele Identifier: CA279487

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 217558
• ClinVar RCV Id: RCV000201694 ; RCV001844086 ; RCV002265683
• dbSNP Id: rs863225150
• MyVariant Identifiers: chr19:g.41860913G>A (hg19) ; chr19:g.41355008G>A (hg38)
• PubMed: PMID:26092869

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41355008G>A , CM000681.2:g.41355008G>A	GRCh38
NC_000019.9:g.41860913G>A , CM000681.1:g.41860913G>A	GRCh37
NC_000019.8:g.46552753G>A	NCBI36
NG_013091.1:g.14166C>T
NG_013364.1:g.3919C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.220C>T (B9D2) MANE Select	ENSP00000243578.2:p.Pro74Ser
ENST00000675972.1:c.220C>T (B9D2)	ENSP00000501911.1:p.Pro74Ser
ENST00000243578.7:c.220C>T (B9D2)	ENSP00000243578.2:p.Pro74Ser
ENST00000539627.5:c.-30+3806G>A (TMEM91)	ENSP00000441900.1:n.-30+3806G>A
ENST00000594416.1:c.*66C>T (B9D2)	ENSP00000469666.1:n.*66C>T
ENST00000604123.5:c.142+693G>A (TMEM91)	ENSP00000474871.1:n.142+693G>A
ENST00000604424.1:n.350+3806G>A
NM_030578.3:c.220C>T (B9D2)	NP_085055.2:p.Pro74Ser
XM_006723405.1:c.94C>T (B9D2)	XP_006723468.1:p.Pro32Ser
XM_011527349.1:c.220C>T (B9D2)	XP_011525651.1:p.Pro74Ser
XM_011527350.1:c.61C>T (B9D2)	XP_011525652.1:p.Pro21Ser
XM_011527349.2:c.220C>T (B9D2)	XP_011525651.1:p.Pro74Ser
XM_011527350.2:c.61C>T (B9D2)	XP_011525652.1:p.Pro21Ser
NM_030578.4:c.220C>T (B9D2) MANE Select	NP_085055.2:p.Pro74Ser