Canonical Allele Identifier: CA10589015

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 266687
• ClinVar RCV Id: RCV000257424
• dbSNP Id: rs886040414
• MyVariant Identifiers: chr13:g.32893370_32893371insA (hg19) ; chr13:g.32319233_32319234insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319233_32319234insA , CM000675.2:g.32319233_32319234insA	GRCh38
NC_000013.10:g.32893370_32893371insA , CM000675.1:g.32893370_32893371insA	GRCh37
NC_000013.9:g.31791370_31791371insA	NCBI36
NG_012772.3:g.8754_8755insA , LRG_293:g.8754_8755insA
NG_017006.2:g.1130_1131insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.224_225insA	ENSP00000434898.2:p.Ser76PhefsTer25
ENST00000528762.2:c.224_225insA	ENSP00000433168.2:p.Ser76PhefsTer25
ENST00000530893.7:c.-146_-145insA	ENSP00000499438.2:n.-146_-145insA
ENST00000665585.2:c.224_225insA	ENSP00000499570.2:p.Ser76PhefsTer25
ENST00000666593.2:c.224_225insA	ENSP00000499256.2:p.Ser76PhefsTer25
ENST00000700202.2:c.224_225insA	ENSP00000514856.2:p.Ser76PhefsTer25
ENST00000700200.1:n.191+2706_191+2707insA
ENST00000700201.1:c.224_225insA	ENSP00000514855.1:p.Ser76PhefsTer25
ENST00000380152.8:c.224_225insA MANE Select	ENSP00000369497.3:p.Ser76PhefsTer25
ENST00000544455.6:c.224_225insA	ENSP00000439902.1:p.Ser76PhefsTer25
ENST00000614259.2:c.224_225insA	ENSP00000506251.1:p.Ser76PhefsTer25
ENST00000680887.1:c.224_225insA	ENSP00000505508.1:p.Ser76PhefsTer25
ENST00000380152.7:c.224_225insA	ENSP00000369497.3:p.Ser76PhefsTer25
ENST00000530893.6:n.422_423insA
ENST00000544455.5:c.224_225insA	ENSP00000439902.1:p.Ser76PhefsTer25
ENST00000614259.1:n.224_225insA
NM_000059.3:c.224_225insA , LRG_293t1:c.224_225insA	NP_000050.2:p.Ser76PhefsTer25
XM_011535203.1:c.224_225insA	XP_011533505.1:p.Ser76PhefsTer25
XM_011535204.1:c.224_225insA	XP_011533506.1:p.Ser76PhefsTer25
XM_011535205.1:c.224_225insA	XP_011533507.1:p.Ser76PhefsTer25
NM_000059.4:c.224_225insA MANE Select	NP_000050.3:p.Ser76PhefsTer25