Canonical Allele Identifier: CA1636887
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43844540G>A
GRCh37 chr2:g.44071679G>A
Revel Score:
ENST00000272286 (MANE Select) 0.405
gnomAD v2:
2:44071679 G / A
gnomAD v3:
2:43844540 G / A
gnomAD v4:
chr2-43844540-G-A
Joint Max Group AF 0.00109583 (AFR)
Genomes Max Group AF 0.00110825 (AFR)
Exomes Max Group AF 0.00090169 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43844540G>A , CM000664.2:g.43844540G>A GRCh38
NC_000002.11:g.44071679G>A , CM000664.1:g.44071679G>A GRCh37
NC_000002.10:g.43925183G>A NCBI36
NG_008884.1:g.10577G>A
NG_008884.2:g.17599G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.97G>A MANE Select ENSP00000272286.2:p.Asp33Asn
ENST00000643284.1:n.554G>A
ENST00000644611.1:c.109G>A ENSP00000495423.1:p.Asp37Asn
ENST00000272286.2:c.97G>A ENSP00000272286.2:p.Asp33Asn
NM_022437.2:c.97G>A NP_071882.1:p.Asp33Asn
XM_005264483.2:c.97G>A XP_005264540.1:p.Asp33Asn
XM_011533029.1:c.109G>A XP_011531331.1:p.Asp37Asn
XM_011533030.1:c.109G>A XP_011531332.1:p.Asp37Asn
XM_011533031.1:c.-120G>A XP_011531333.1:n.-120G>A
XR_939707.1:n.599G>A
NM_001357321.1:c.97G>A NP_001344250.1:p.Asp33Asn
XM_011533029.2:c.109G>A XP_011531331.1:p.Asp37Asn
XM_011533030.2:c.109G>A XP_011531332.1:p.Asp37Asn
XR_001738891.1:n.613G>A
XR_939707.2:n.613G>A
NM_022437.3:c.97G>A MANE Select NP_071882.1:p.Asp33Asn
NM_001357321.2:c.97G>A NP_001344250.1:p.Asp33Asn
Search 100 bp 5'
Search 100 bp 3'