Canonical Allele Identifier: CA508293245
Gene: BCL2L12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.50169134G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.49665877G>C , CM000681.2:g.49665877G>C GRCh38
NC_000019.9:g.50169134G>C , CM000681.1:g.50169134G>C GRCh37
NC_000019.8:g.54860946G>C NCBI36
NG_031810.1:g.4999C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000698553.1:c.-816G>C ENSP00000513795.1:n.-816G>C
ENST00000698554.1:c.-816G>C ENSP00000513796.1:n.-816G>C
ENST00000698555.1:c.-816G>C ENSP00000513797.1:n.-816G>C
ENST00000698556.1:c.-816G>C ENSP00000513798.1:n.-816G>C
ENST00000698557.1:c.-816G>C ENSP00000513799.1:n.-816G>C
ENST00000698558.1:c.-816G>C ENSP00000513800.1:n.-816G>C
ENST00000698559.1:c.-816G>C ENSP00000513801.1:n.-816G>C
ENST00000698560.1:c.-816G>C ENSP00000513802.1:n.-816G>C
ENST00000698561.1:c.-816G>C ENSP00000513803.1:n.-816G>C
ENST00000246785.7:c.54G>C ENSP00000246785.2:p.Arg18=
ENST00000441864.6:c.54G>C ENSP00000393803.1:p.Arg18=
ENST00000611631.4:c.54G>C ENSP00000478415.1:p.Arg18=
ENST00000614495.4:c.54G>C ENSP00000482154.1:p.Arg18=
ENST00000616144.4:c.54G>C ENSP00000482218.1:p.Arg18=
ENST00000619007.4:c.54G>C ENSP00000483272.1:p.Arg18=
NM_001040668.1:c.54G>C NP_001035758.1:p.Arg18=
NM_001282516.1:c.54G>C NP_001269445.1:p.Arg18=
NM_001282517.1:c.54G>C NP_001269446.1:p.Arg18=
NM_001282519.1:c.54G>C NP_001269448.1:p.Arg18=
NM_001282520.1:c.54G>C NP_001269449.1:p.Arg18=
NM_001282521.1:c.54G>C NP_001269450.1:p.Arg18=
NM_138639.1:c.54G>C NP_619580.1:p.Arg18=
NR_104200.1:n.736G>C
NR_104201.1:n.736G>C
NR_104202.1:n.736G>C
NR_104203.1:n.736G>C
NR_104204.1:n.736G>C
NR_104205.1:n.736G>C
XM_017027345.2:c.54G>C XP_016882834.1:p.Arg18=
XM_017027346.2:c.54G>C XP_016882835.1:p.Arg18=