Canonical Allele Identifier: CA387743196

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32930597A>C (hg19) ; chr13:g.32356460A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356460A>C , CM000675.2:g.32356460A>C	GRCh38
NC_000013.10:g.32930597A>C , CM000675.1:g.32930597A>C	GRCh37
NC_000013.9:g.31828597A>C	NCBI36
NG_012772.3:g.45981A>C , LRG_293:g.45981A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7468A>C	ENSP00000434898.2:p.Ile2490Leu
ENST00000528762.2:c.7468A>C	ENSP00000433168.2:p.Ile2490Leu
ENST00000530893.7:c.7099A>C	ENSP00000499438.2:p.Ile2367Leu
ENST00000665585.2:c.7468A>C	ENSP00000499570.2:p.Ile2490Leu
ENST00000666593.2:c.7468A>C	ENSP00000499256.2:p.Ile2490Leu
ENST00000700202.2:c.7468A>C	ENSP00000514856.2:p.Ile2490Leu
ENST00000380152.8:c.7468A>C MANE Select	ENSP00000369497.3:p.Ile2490Leu
ENST00000544455.6:c.7468A>C	ENSP00000439902.1:p.Ile2490Leu
ENST00000614259.2:c.7468A>C	ENSP00000506251.1:p.Ile2490Leu
ENST00000665585.1:c.33A>C
ENST00000680887.1:c.7468A>C	ENSP00000505508.1:p.Ile2490Leu
ENST00000380152.7:c.7468A>C	ENSP00000369497.3:p.Ile2490Leu
ENST00000544455.5:c.7468A>C	ENSP00000439902.1:p.Ile2490Leu
ENST00000614259.1:n.7468A>C
NM_000059.3:c.7468A>C , LRG_293t1:c.7468A>C	NP_000050.2:p.Ile2490Leu
XM_011535203.1:c.7468A>C	XP_011533505.1:p.Ile2490Leu
XM_011535204.1:c.7372A>C	XP_011533506.1:p.Ile2458Leu
XM_011535205.1:c.7468A>C	XP_011533507.1:p.Ile2490Leu
NM_000059.4:c.7468A>C MANE Select	NP_000050.3:p.Ile2490Leu