Canonical Allele Identifier: CA7988382

Gene: CD19 RABEP2

Linked Data

• ClinVar Variation Id: 318804
• ClinVar RCV Id: RCV000366349 ; RCV000662337 ; RCV004021653
• dbSNP Id: rs148200569
• ExAC: 16:28944403 C / T
• gnomAD v2: 16-28944403-C-T
• gnomAD v3: 16-28933082-C-T
• gnomAD v4: 16-28933082-C-T
• MyVariant Identifiers: chr16:g.28944403C>T (hg19) ; chr16:g.28933082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28933082C>T , CM000678.2:g.28933082C>T	GRCh38
NC_000016.9:g.28944403C>T , CM000678.1:g.28944403C>T	GRCh37
NC_000016.8:g.28851904C>T	NCBI36
NG_007275.1:g.6144C>T , LRG_35:g.6144C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324662.8:c.527C>T (CD19)	ENSP00000313419.4:p.Pro176Leu
ENST00000538922.8:c.527C>T (CD19) MANE Select	ENSP00000437940.2:p.Pro176Leu
ENST00000324662.7:c.527C>T (CD19)	ENSP00000313419.3:p.Pro176Leu
ENST00000538922.5:c.527C>T (CD19)	ENSP00000437940.1:p.Pro176Leu
ENST00000565089.5:n.861C>T (CD19)
ENST00000566762.1:c.-150+3182G>A (RABEP2)	ENSP00000454974.1:n.-150+3182G>A
ENST00000566890.1:n.150C>T (CD19)
ENST00000567541.5:c.527C>T (CD19)	ENSP00000456201.1:p.Pro176Leu
ENST00000611258.4:c.527C>T (CD19)	ENSP00000481090.1:p.Pro176Leu
NM_001178098.1:c.527C>T (CD19)	NP_001171569.1:p.Pro176Leu
NM_001770.5:c.527C>T , LRG_35t1:c.527C>T (CD19)	NP_001761.3:p.Pro176Leu
XM_006721103.2:c.260C>T (CD19)	XP_006721166.1:p.Pro87Leu
XM_011545981.1:c.527C>T (CD19)	XP_011544283.1:p.Pro176Leu
XR_950871.1:n.589C>T (CD19)
XR_950872.1:n.589C>T (CD19)
XM_006721103.3:c.260C>T (CD19)	XP_006721166.1:p.Pro87Leu
XM_011545981.2:c.527C>T (CD19)	XP_011544283.1:p.Pro176Leu
XM_017023893.1:c.260C>T (CD19)	XP_016879382.1:p.Pro87Leu
XR_950871.2:n.572C>T (CD19)
NM_001178098.2:c.527C>T (CD19)	NP_001171569.1:p.Pro176Leu
NM_001770.6:c.527C>T (CD19) MANE Select	NP_001761.3:p.Pro176Leu
NM_001385732.1:c.260C>T (CD19)	NP_001372661.1:p.Pro87Leu
NR_169755.1:n.855C>T (CD19)