Canonical Allele Identifier: CA9460214
Gene: B9D2 HGNC NCBI
TMEM91 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.41354682C>T
GRCh37 chr19:g.41860587C>T
gnomAD v2:
19:41860587 C / T
gnomAD v3:
19:41354682 C / T
gnomAD v4:
chr19-41354682-C-T
Joint Max Group AF 0.09417964 (MID)
Genomes Max Group AF 0.07920801 (NFE)
Exomes Max Group AF 0.09529377 (MID)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41354682C>T , CM000681.2:g.41354682C>T GRCh38
NC_000019.9:g.41860587C>T , CM000681.1:g.41860587C>T GRCh37
NC_000019.8:g.46552427C>T NCBI36
NG_013091.1:g.14492G>A
NG_013364.1:g.4245G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000243578.8:c.*18G>A (B9D2) MANE Select ENSP00000243578.2:n.*18G>A
ENST00000675972.1:c.*18G>A (B9D2) ENSP00000501911.1:n.*18G>A
ENST00000243578.7:c.*18G>A (B9D2) ENSP00000243578.2:n.*18G>A
ENST00000539627.5:c.-30+3480C>T (TMEM91) ENSP00000441900.1:n.-30+3480C>T
ENST00000604123.5:c.142+367C>T (TMEM91) ENSP00000474871.1:n.142+367C>T
ENST00000604424.1:n.350+3480C>T
NM_030578.3:c.*18G>A (B9D2) NP_085055.2:n.*18G>A
XM_006723405.1:c.*18G>A (B9D2) XP_006723468.1:n.*18G>A
XM_011527349.1:c.*18G>A (B9D2) XP_011525651.1:n.*18G>A
XM_011527350.1:c.*18G>A (B9D2) XP_011525652.1:n.*18G>A
XM_011527349.2:c.*18G>A (B9D2) XP_011525651.1:n.*18G>A
XM_011527350.2:c.*18G>A (B9D2) XP_011525652.1:n.*18G>A
NM_030578.4:c.*18G>A (B9D2) MANE Select NP_085055.2:n.*18G>A
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