Canonical Allele Identifier: CA413921809
Community Standard Title: NM_000061.3(BTK):c.1631+2T>C
Gene: BTK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101354628A>G , CM000685.2:g.101354628A>G GRCh38
NC_000023.10:g.100609616A>G , CM000685.1:g.100609616A>G GRCh37
NC_000023.9:g.100496272A>G NCBI36
NG_009616.1:g.36597T>C , LRG_128:g.36597T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000061.3:c.1631+2T>C MANE Select NP_000052.1:n.1631+2T>C
ENST00000308731.8:c.1631+2T>C MANE Select ENSP00000308176.8:n.1631+2T>C
NM_000061.2:c.1631+2T>C , LRG_128t1:c.1631+2T>C NP_000052.1:n.1631+2T>C
NM_001287344.1:c.1733+2T>C NP_001274273.1:n.1733+2T>C
NM_001287344.2:c.1733+2T>C NP_001274273.1:n.1733+2T>C
NM_001287345.1:c.1103+2T>C NP_001274274.1:n.1103+2T>C
NM_001287345.2:c.1103+2T>C NP_001274274.1:n.1103+2T>C
ENST00000308731.7:c.1631+2T>C ENSP00000308176.7:n.1631+2T>C
ENST00000372880.5:c.1103+2T>C ENSP00000361971.1:n.1103+2T>C
ENST00000478995.2:n.3148+2T>C
ENST00000488970.2:n.3148T>C
ENST00000618050.4:c.1631+2T>C ENSP00000479125.1:n.1631+2T>C
ENST00000621635.4:c.1733+2T>C ENSP00000483570.1:n.1733+2T>C
ENST00000695614.1:c.1631+2T>C ENSP00000512053.1:n.1631+2T>C
ENST00000695615.1:c.1631+2T>C ENSP00000512054.1:n.1631+2T>C
ENST00000695616.1:c.*1476+2T>C ENSP00000512055.1:n.*1476+2T>C
ENST00000695617.1:c.1628+2T>C ENSP00000512056.1:n.1628+2T>C
ENST00000695618.1:c.*1380+2T>C ENSP00000512058.1:n.*1380+2T>C
ENST00000695619.1:c.*1341+2T>C ENSP00000512059.1:n.*1341+2T>C
ENST00000695620.1:c.*1557+2T>C ENSP00000512060.1:n.*1557+2T>C
ENST00000695621.1:c.1633T>C ENSP00000512061.1:p.Ter545Arg
ENST00000695622.1:c.1568+2T>C ENSP00000512062.1:n.1568+2T>C
ENST00000695623.1:c.1625+2T>C ENSP00000512063.1:n.1625+2T>C
ENST00000695624.1:n.936+2T>C
ENST00000695625.1:c.1631+2T>C ENSP00000512064.1:n.1631+2T>C
ENST00000695626.1:c.386+2T>C ENSP00000512065.1:n.386+2T>C
ENST00000695627.1:c.580-640T>C ENSP00000512066.1:n.580-640T>C
ENST00000695628.1:c.191-640T>C ENSP00000512067.1:n.191-640T>C
ENST00000695629.1:c.191-1277T>C ENSP00000512068.1:n.191-1277T>C
ENST00000695630.1:c.359-640T>C
ENST00000695631.1:c.115-1380T>C
ENST00000695632.1:n.431+2T>C
ENST00000703407.1:c.1103+2T>C ENSP00000512057.1:n.1103+2T>C