Canonical Allele Identifier: CA7988349

Gene: CD19 RABEP2

Linked Data

• ClinVar Variation Id: 318798
• ClinVar RCV Id: RCV000757064 ; RCV001311440 ; RCV003922343
• dbSNP Id: rs142342927
• ExAC: 16:28944257 G / A
• gnomAD v2: 16-28944257-G-A
• gnomAD v3: 16-28932936-G-A
• gnomAD v4: 16-28932936-G-A
• COSMIC: COSM1377210
• MyVariant Identifiers: chr16:g.28944257G>A (hg19) ; chr16:g.28932936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.28932936G>A , CM000678.2:g.28932936G>A	GRCh38
NC_000016.9:g.28944257G>A , CM000678.1:g.28944257G>A	GRCh37
NC_000016.8:g.28851758G>A	NCBI36
NG_007275.1:g.5998G>A , LRG_35:g.5998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324662.8:c.381G>A (CD19)	ENSP00000313419.4:p.Ser127=
ENST00000538922.8:c.381G>A (CD19) MANE Select	ENSP00000437940.2:p.Ser127=
ENST00000324662.7:c.381G>A (CD19)	ENSP00000313419.3:p.Ser127=
ENST00000538922.5:c.381G>A (CD19)	ENSP00000437940.1:p.Ser127=
ENST00000565089.5:n.715G>A (CD19)
ENST00000566762.1:c.-150+3328C>T (RABEP2)	ENSP00000454974.1:n.-150+3328C>T
ENST00000566890.1:n.4G>A (CD19)
ENST00000567541.5:c.381G>A (CD19)	ENSP00000456201.1:p.Ser127=
ENST00000611258.4:c.381G>A (CD19)	ENSP00000481090.1:p.Ser127=
NM_001178098.1:c.381G>A (CD19)	NP_001171569.1:p.Ser127=
NM_001770.5:c.381G>A , LRG_35t1:c.381G>A (CD19)	NP_001761.3:p.Ser127=
XM_006721103.2:c.114G>A (CD19)	XP_006721166.1:p.Ser38=
XM_011545981.1:c.381G>A (CD19)	XP_011544283.1:p.Ser127=
XR_950871.1:n.443G>A (CD19)
XR_950872.1:n.443G>A (CD19)
XM_006721103.3:c.114G>A (CD19)	XP_006721166.1:p.Ser38=
XM_011545981.2:c.381G>A (CD19)	XP_011544283.1:p.Ser127=
XM_017023893.1:c.114G>A (CD19)	XP_016879382.1:p.Ser38=
XR_950871.2:n.426G>A (CD19)
NM_001178098.2:c.381G>A (CD19)	NP_001171569.1:p.Ser127=
NM_001770.6:c.381G>A (CD19) MANE Select	NP_001761.3:p.Ser127=
NM_001385732.1:c.114G>A (CD19)	NP_001372661.1:p.Ser38=
NR_169755.1:n.709G>A (CD19)