Canonical Allele Identifier: CA1924989

Gene: BAZ2B

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.159438579T>C , CM000664.2:g.159438579T>C	GRCh38
NC_000002.11:g.160295090T>C , CM000664.1:g.160295090T>C	GRCh37
NC_000002.10:g.160003336T>C	NCBI36
NG_051314.1:g.278861A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_013450.4:c.1017A>G MANE Select	NP_038478.2:p.Ser339=
ENST00000392783.7:c.1017A>G MANE Select	ENSP00000376534.2:p.Ser339=
NM_001289975.1:c.1011A>G	NP_001276904.1:p.Ser337=
NM_001329857.1:c.828A>G	NP_001316786.1:p.Ser276=
NM_001329857.2:c.828A>G	NP_001316786.1:p.Ser276=
NM_001329858.1:c.1017A>G	NP_001316787.1:p.Ser339=
NM_001329858.2:c.1017A>G	NP_001316787.1:p.Ser339=
NM_013450.3:c.1017A>G	NP_038478.2:p.Ser339=
ENST00000343439.9:c.429A>G	ENSP00000339670.6:p.Ser143=
ENST00000392782.5:c.1011A>G	ENSP00000376533.1:p.Ser337=
ENST00000392783.6:c.1017A>G	ENSP00000376534.2:p.Ser339=
ENST00000467184.5:n.1185A>G
ENST00000482503.5:n.1394A>G
XM_005246488.2:c.1017A>G	XP_005246545.2:p.Ser339=
XM_005246489.3:c.1017A>G	XP_005246546.2:p.Ser339=
XM_005246489.4:c.1017A>G	XP_005246546.2:p.Ser339=
XM_005246492.3:c.1011A>G	XP_005246549.2:p.Ser337=
XM_005246492.4:c.1011A>G	XP_005246549.2:p.Ser337=
XM_006712461.2:c.1017A>G	XP_006712524.2:p.Ser339=
XM_011511036.1:c.1068A>G	XP_011509338.1:p.Ser356=
XM_011511037.1:c.1068A>G	XP_011509339.1:p.Ser356=
XM_011511038.1:c.1017A>G	XP_011509340.1:p.Ser339=
XM_011511038.2:c.1017A>G	XP_011509340.1:p.Ser339=
XM_011511039.1:c.1017A>G	XP_011509341.1:p.Ser339=
XM_011511040.1:c.1017A>G	XP_011509342.1:p.Ser339=
XM_011511041.1:c.1017A>G	XP_011509343.1:p.Ser339=
XM_011511042.1:c.1017A>G	XP_011509344.1:p.Ser339=
XM_011511043.1:c.1017A>G	XP_011509345.1:p.Ser339=
XM_011511044.1:c.1017A>G	XP_011509346.1:p.Ser339=
XM_011511045.1:c.822A>G	XP_011509347.1:p.Ser274=
XM_011511046.1:c.1017A>G	XP_011509348.1:p.Ser339=
XM_011511047.1:c.828A>G	XP_011509349.1:p.Ser276=
XM_011511048.1:c.828A>G	XP_011509350.1:p.Ser276=
XM_011511048.2:c.828A>G	XP_011509350.1:p.Ser276=
XM_011511049.1:c.1017A>G	XP_011509351.1:p.Ser339=
XM_011511050.1:c.1011A>G	XP_011509352.1:p.Ser337=
XM_011511051.1:c.1011A>G	XP_011509353.1:p.Ser337=
XM_011511052.1:c.1017A>G	XP_011509354.1:p.Ser339=
XM_011511053.1:c.1017A>G	XP_011509355.1:p.Ser339=
XM_011511053.3:c.1017A>G	XP_011509355.1:p.Ser339=
XM_011511054.1:c.1017A>G	XP_011509356.1:p.Ser339=
XM_011511054.2:c.1017A>G	XP_011509356.1:p.Ser339=
XM_011511055.1:c.1017A>G	XP_011509357.1:p.Ser339=
XM_017003920.1:c.1017A>G	XP_016859409.1:p.Ser339=
XM_017003921.1:c.1011A>G	XP_016859410.1:p.Ser337=
XM_017003922.1:c.1011A>G	XP_016859411.1:p.Ser337=
XM_017003923.1:c.1017A>G	XP_016859412.1:p.Ser339=
XM_017003924.1:c.1011A>G	XP_016859413.1:p.Ser337=
XM_017003925.1:c.1017A>G	XP_016859414.1:p.Ser339=
XM_017003926.1:c.822A>G	XP_016859415.1:p.Ser274=
XM_017003928.1:c.1017A>G	XP_016859417.1:p.Ser339=
XM_017003930.1:c.1017A>G	XP_016859419.1:p.Ser339=
XM_017003931.1:c.1011A>G	XP_016859420.1:p.Ser337=
XM_017003933.1:c.828A>G	XP_016859422.1:p.Ser276=
XM_017003934.1:c.822A>G	XP_016859423.1:p.Ser274=
XM_017003935.1:c.828A>G	XP_016859424.1:p.Ser276=
XM_017003936.1:c.822A>G	XP_016859425.1:p.Ser274=
XM_024452825.1:c.1068A>G	XP_024308593.1:p.Ser356=
XM_024452826.1:c.1068A>G	XP_024308594.1:p.Ser356=
XM_024452827.1:c.1068A>G	XP_024308595.1:p.Ser356=
XM_024452828.1:c.1017A>G	XP_024308596.1:p.Ser339=
XM_024452829.1:c.1017A>G	XP_024308597.1:p.Ser339=
XR_001738732.1:n.1019A>G
XR_001738733.1:n.1019A>G