Canonical Allele Identifier: CA576372693
Gene: BAIAP2L1 HGNC NCBI

Linked Data

dbSNP Id: rs1227767247
gnomAD v2: 7-97993292-C-T
gnomAD v3: 7-98363980-C-T
gnomAD v4: 7-98363980-C-T
MyVariant Identifiers: chr7:g.97993292C>T (hg19) chr7:g.98363980C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.98363980C>T , CM000669.2:g.98363980C>T GRCh38
NC_000007.13:g.97993292C>T , CM000669.1:g.97993292C>T GRCh37
NC_000007.12:g.97831228C>T NCBI36
NG_013090.1:g.42136G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000005260.9:c.52-1548G>A MANE Select ENSP00000005260.8:n.52-1548G>A
ENST00000005260.8:c.52-1548G>A ENSP00000005260.8:n.52-1548G>A
ENST00000462558.5:n.268-1548G>A
ENST00000479789.1:n.358-1548G>A
NM_018842.4:c.52-1548G>A NP_061330.2:n.52-1548G>A
NM_018842.5:c.52-1548G>A MANE Select NP_061330.2:n.52-1548G>A
Search 100 bp 5'
Search 100 bp 3'