Canonical Allele Identifier: CA1707951
Gene: CYP26B1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.72134831A>G
GRCh37 chr2:g.72361960A>G
Revel Score:
ENST00000001146 (MANE Select) 0.058
ENST00000412253 0.058
ENST00000546307 0.058
gnomAD v2:
2:72361960 A / G
gnomAD v3:
2:72134831 A / G
gnomAD v4:
chr2-72134831-A-G
Joint Max Group AF 0.28720534 (AFR)
Genomes Max Group AF 0.28598297 (AFR)
Exomes Max Group AF 0.29913127 (AMR)
ClinVar RCV:
RCV001538165
ClinVar Variation:
1180923
dbSNP:
2241057
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.72134831A>G , CM000664.2:g.72134831A>G GRCh38
NC_000002.11:g.72361960A>G , CM000664.1:g.72361960A>G GRCh37
NC_000002.10:g.72215468A>G NCBI36
NG_007957.1:g.18004T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000001146.7:c.791T>C MANE Select ENSP00000001146.2:p.Leu264Ser
ENST00000001146.6:c.791T>C ENSP00000001146.2:p.Leu264Ser
ENST00000412253.1:c.218T>C ENSP00000401465.1:p.Leu73Ser
ENST00000546307.5:c.566T>C ENSP00000443304.1:p.Leu189Ser
NM_001277742.1:c.566T>C NP_001264671.1:p.Leu189Ser
NM_019885.3:c.791T>C NP_063938.1:p.Leu264Ser
XM_005264433.3:c.617T>C XP_005264490.1:p.Leu206Ser
XM_011532988.1:c.218T>C XP_011531290.1:p.Leu73Ser
XM_005264433.4:c.617T>C XP_005264490.1:p.Leu206Ser
NM_001277742.2:c.566T>C NP_001264671.1:p.Leu189Ser
NM_019885.4:c.791T>C MANE Select NP_063938.1:p.Leu264Ser
Search 100 bp 5'
Search 100 bp 3'