Canonical Allele Identifier: CA15941196

Gene: B9D2 TMEM91

Linked Data

• ClinVar Variation Id: 1188357
• ClinVar RCV Id: RCV001548121
• dbSNP Id: rs79033882
• gnomAD v2: 19-41869235-T-C
• gnomAD v3: 19-41363330-T-C
• gnomAD v4: 19-41363330-T-C
• MyVariant Identifiers: chr19:g.41869235T>C (hg19) ; chr19:g.41363330T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41363330T>C , CM000681.2:g.41363330T>C	GRCh38
NC_000019.9:g.41869235T>C , CM000681.1:g.41869235T>C	GRCh37
NC_000019.8:g.46561075T>C	NCBI36
NG_013091.1:g.5844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000243578.8:c.88+102A>G (B9D2) MANE Select	ENSP00000243578.2:n.88+102A>G
ENST00000675972.1:c.88+102A>G (B9D2)	ENSP00000501911.1:n.88+102A>G
ENST00000243578.7:c.88+102A>G (B9D2)	ENSP00000243578.2:n.88+102A>G
ENST00000539627.5:c.-30+12128T>C (TMEM91)	ENSP00000441900.1:n.-30+12128T>C
ENST00000594416.1:c.88+102A>G (B9D2)	ENSP00000469666.1:n.88+102A>G
ENST00000601597.1:n.227+102A>G (B9D2)
ENST00000604123.5:c.142+9015T>C (TMEM91)	ENSP00000474871.1:n.142+9015T>C
ENST00000604424.1:n.350+12128T>C
NM_030578.3:c.88+102A>G (B9D2)	NP_085055.2:n.88+102A>G
XM_006723405.1:c.88+102A>G (B9D2)	XP_006723468.1:n.88+102A>G
XM_011527349.1:c.88+102A>G (B9D2)	XP_011525651.1:n.88+102A>G
XM_011527350.1:c.-72+628A>G (B9D2)	XP_011525652.1:n.-72+628A>G
XM_011527349.2:c.88+102A>G (B9D2)	XP_011525651.1:n.88+102A>G
XM_011527350.2:c.-72+628A>G (B9D2)	XP_011525652.1:n.-72+628A>G
NM_030578.4:c.88+102A>G (B9D2) MANE Select	NP_085055.2:n.88+102A>G