Canonical Allele Identifier: CA537057112

Gene: BAZ2B

Linked Data

• dbSNP Id: rs1342637130
• gnomAD v2: 2-160190090-CCA-C
• gnomAD v3: 2-159333579-CCA-C
• gnomAD v4: 2-159333579-CCA-C
• MyVariant Identifiers: chr2:g.160190091_160190092del (hg19) ; chr2:g.159333580_159333581del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.159333580_159333581del , CM000664.2:g.159333580_159333581del	GRCh38
NC_000002.11:g.160190091_160190092del , CM000664.1:g.160190091_160190092del	GRCh37
NC_000002.10:g.159898337_159898338del	NCBI36
NG_051314.1:g.383859_383860del

Transcript Alleles

HGVS	Amino-acid change
ENST00000392783.7:c.5797-895_5797-894del MANE Select	ENSP00000376534.2:n.5797-895_5797-894del
ENST00000392782.5:c.5689-895_5689-894del	ENSP00000376533.1:n.5689-895_5689-894del
ENST00000392783.6:c.5797-895_5797-894del	ENSP00000376534.2:n.5797-895_5797-894del
ENST00000474437.1:n.337-895_337-894del
NM_001289975.1:c.5689-895_5689-894del	NP_001276904.1:n.5689-895_5689-894del
NM_013450.3:c.5797-895_5797-894del	NP_038478.2:n.5797-895_5797-894del
XM_005246488.2:c.5935-895_5935-894del	XP_005246545.2:n.5935-895_5935-894del
XM_005246489.3:c.5935-895_5935-894del	XP_005246546.2:n.5935-895_5935-894del
XM_005246492.3:c.5929-895_5929-894del	XP_005246549.2:n.5929-895_5929-894del
XM_006712461.2:c.5935-895_5935-894del	XP_006712524.2:n.5935-895_5935-894del
XM_011511036.1:c.5986-895_5986-894del	XP_011509338.1:n.5986-895_5986-894del
XM_011511037.1:c.5986-895_5986-894del	XP_011509339.1:n.5986-895_5986-894del
XM_011511038.1:c.5929-895_5929-894del	XP_011509340.1:n.5929-895_5929-894del
XM_011511039.1:c.5902-895_5902-894del	XP_011509341.1:n.5902-895_5902-894del
XM_011511040.1:c.5935-895_5935-894del	XP_011509342.1:n.5935-895_5935-894del
XM_011511041.1:c.5833-895_5833-894del	XP_011509343.1:n.5833-895_5833-894del
XM_011511042.1:c.5830-895_5830-894del	XP_011509344.1:n.5830-895_5830-894del
XM_011511043.1:c.5800-895_5800-894del	XP_011509345.1:n.5800-895_5800-894del
XM_011511044.1:c.5827-895_5827-894del	XP_011509346.1:n.5827-895_5827-894del
XM_011511045.1:c.5740-895_5740-894del	XP_011509347.1:n.5740-895_5740-894del
XM_011511046.1:c.5800-895_5800-894del	XP_011509348.1:n.5800-895_5800-894del
XM_011511047.1:c.5746-895_5746-894del	XP_011509349.1:n.5746-895_5746-894del
XM_011511048.1:c.5746-895_5746-894del	XP_011509350.1:n.5746-895_5746-894del
XM_011511049.1:c.5641-895_5641-894del	XP_011509351.1:n.5641-895_5641-894del
XM_011511050.1:c.5635-895_5635-894del	XP_011509352.1:n.5635-895_5635-894del
XM_011511051.1:c.5716-895_5716-894del	XP_011509353.1:n.5716-895_5716-894del
XM_011511052.1:c.5539-895_5539-894del	XP_011509354.1:n.5539-895_5539-894del
XM_011511053.1:c.5935-895_5935-894del	XP_011509355.1:n.5935-895_5935-894del
XM_011511054.1:c.5694-895_5694-894del	XP_011509356.1:n.5694-895_5694-894del
XM_011511055.1:c.5694-895_5694-894del	XP_011509357.1:n.5694-895_5694-894del
XM_011511056.1:c.3487-895_3487-894del	XP_011509358.1:n.3487-895_3487-894del
XM_011511057.1:c.2929-895_2929-894del	XP_011509359.1:n.2929-895_2929-894del
NM_001329857.1:c.5740-895_5740-894del	NP_001316786.1:n.5740-895_5740-894del
NM_001329858.1:c.5722-895_5722-894del	NP_001316787.1:n.5722-895_5722-894del
XM_005246489.4:c.5935-895_5935-894del	XP_005246546.2:n.5935-895_5935-894del
XM_005246492.4:c.5929-895_5929-894del	XP_005246549.2:n.5929-895_5929-894del
XM_011511038.2:c.5929-895_5929-894del	XP_011509340.1:n.5929-895_5929-894del
XM_011511048.2:c.5746-895_5746-894del	XP_011509350.1:n.5746-895_5746-894del
XM_011511053.3:c.5935-895_5935-894del	XP_011509355.1:n.5935-895_5935-894del
XM_011511054.2:c.5694-895_5694-894del	XP_011509356.1:n.5694-895_5694-894del
XM_017003920.1:c.5935-895_5935-894del	XP_016859409.1:n.5935-895_5935-894del
XM_017003921.1:c.5929-895_5929-894del	XP_016859410.1:n.5929-895_5929-894del
XM_017003922.1:c.5929-895_5929-894del	XP_016859411.1:n.5929-895_5929-894del
XM_017003923.1:c.5929-895_5929-894del	XP_016859412.1:n.5929-895_5929-894del
XM_017003924.1:c.5827-895_5827-894del	XP_016859413.1:n.5827-895_5827-894del
XM_017003925.1:c.5833-895_5833-894del	XP_016859414.1:n.5833-895_5833-894del
XM_017003926.1:c.5734-895_5734-894del	XP_016859415.1:n.5734-895_5734-894del
XM_017003928.1:c.5641-895_5641-894del	XP_016859417.1:n.5641-895_5641-894del
XM_017003930.1:c.5635-895_5635-894del	XP_016859419.1:n.5635-895_5635-894del
XM_017003931.1:c.5629-895_5629-894del	XP_016859420.1:n.5629-895_5629-894del
XM_017003933.1:c.5452-895_5452-894del	XP_016859422.1:n.5452-895_5452-894del
XM_017003934.1:c.5446-895_5446-894del	XP_016859423.1:n.5446-895_5446-894del
XM_017003935.1:c.5350-895_5350-894del	XP_016859424.1:n.5350-895_5350-894del
XM_017003936.1:c.5338-895_5338-894del	XP_016859425.1:n.5338-895_5338-894del
XM_017003937.1:c.3160-895_3160-894del	XP_016859426.1:n.3160-895_3160-894del
XM_024452825.1:c.5986-895_5986-894del	XP_024308593.1:n.5986-895_5986-894del
XM_024452826.1:c.5986-895_5986-894del	XP_024308594.1:n.5986-895_5986-894del
XM_024452827.1:c.5986-895_5986-894del	XP_024308595.1:n.5986-895_5986-894del
XM_024452828.1:c.5935-895_5935-894del	XP_024308596.1:n.5935-895_5935-894del
XM_024452829.1:c.5833-895_5833-894del	XP_024308597.1:n.5833-895_5833-894del
XR_001738732.1:n.5696-895_5696-894del
XR_001738733.1:n.5696-895_5696-894del
NM_013450.4:c.5797-895_5797-894del MANE Select	NP_038478.2:n.5797-895_5797-894del
NM_001329857.2:c.5740-895_5740-894del	NP_001316786.1:n.5740-895_5740-894del
NM_001329858.2:c.5722-895_5722-894del	NP_001316787.1:n.5722-895_5722-894del