Canonical Allele Identifier: CA15422782
Gene: BTN2A1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.26458037T>C
GRCh37 chr6:g.26458265T>C
gnomAD v2:
6:26458265 T / C
gnomAD v3:
6:26458037 T / C
gnomAD v4:
chr6-26458037-T-C
Joint Max Group AF 0.89147726 (EAS)
Genomes Max Group AF 0.89140267 (EAS)
Exomes Max Group AF 0.6613517 (NFE)
dbSNP:
6929846
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.26458037T>C , CM000668.2:g.26458037T>C GRCh38
NC_000006.11:g.26458265T>C , CM000668.1:g.26458265T>C GRCh37
NC_000006.10:g.26566244T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000312541.10:c.-136T>C MANE Select ENSP00000312158.5:n.-136T>C
ENST00000377600.7:c.-136T>C ENSP00000366825.2:n.-136T>C
ENST00000312541.9:c.-136T>C ENSP00000312158.5:n.-136T>C
ENST00000377600.6:c.-136T>C ENSP00000366825.2:n.-136T>C
ENST00000429381.5:c.-136T>C ENSP00000416945.1:n.-136T>C
ENST00000469185.5:c.-136T>C ENSP00000419043.1:n.-136T>C
ENST00000493173.1:c.-207T>C ENSP00000420447.1:n.-207T>C
ENST00000541522.5:c.-207T>C ENSP00000443909.1:n.-207T>C
NM_001197233.2:c.-207T>C NP_001184162.1:n.-207T>C
NM_001197234.2:c.-136T>C NP_001184163.1:n.-136T>C
NM_007049.4:c.-136T>C NP_008980.1:n.-136T>C
NM_078476.3:c.-136T>C NP_510961.1:n.-136T>C
NM_007049.5:c.-136T>C MANE Select NP_008980.1:n.-136T>C
NM_001197234.3:c.-136T>C NP_001184163.1:n.-136T>C
NM_078476.4:c.-136T>C NP_510961.1:n.-136T>C
NM_001197233.3:c.-207T>C NP_001184162.1:n.-207T>C
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