Canonical Allele Identifier: CA9460214
Gene: B9D2 HGNC NCBI

Linked Data

ClinVar Variation Id: 261879
dbSNP Id: rs1800468

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 MANE Select ENSP00000243578.2:p.=
ENST00000675972.1:c.*18G>A ENSP00000501911.1:p.=
ENST00000243578.7:c.*18G>A ENSP00000243578.2:p.=
ENST00000539627.5:c.-30+3480C>T ENSP00000441900.1:p.=
ENST00000604123.5:c.142+367C>T ENSP00000474871.1:p.=
NM_030578.3:c.*18G>A NP_085055.2:p.=
XM_006723405.1:c.*18G>A XP_006723468.1:p.=
XM_011527349.1:c.*18G>A XP_011525651.1:p.=
XM_011527350.1:c.*18G>A XP_011525652.1:p.=
XM_011527349.2:c.*18G>A XP_011525651.1:p.=
XM_011527350.2:c.*18G>A XP_011525652.1:p.=
NM_030578.4:c.*18G>A MANE Select NP_085055.2:p.=