Canonical Allele Identifier: CA1412331

Gene: CAPN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.223772189A>C , CM000663.2:g.223772189A>C	GRCh38
NC_000001.10:g.223959891A>C , CM000663.1:g.223959891A>C	GRCh37
NC_000001.9:g.222026514A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001748.5:c.2029A>C MANE Select	NP_001739.3:p.Lys677Gln
ENST00000295006.6:c.2029A>C MANE Select	ENSP00000295006.5:p.Lys677Gln
NM_001146068.1:c.1795A>C	NP_001139540.1:p.Lys599Gln
NM_001146068.2:c.1795A>C	NP_001139540.1:p.Lys599Gln
NM_001748.4:c.2029A>C	NP_001739.2:p.Lys677Gln
ENST00000295006.5:c.2029A>C	ENSP00000295006.5:p.Lys677Gln
ENST00000433674.6:c.1795A>C	ENSP00000413158.2:p.Lys599Gln
ENST00000463997.1:n.1312A>C
ENST00000472601.5:n.274A>C
ENST00000474026.5:n.2895A>C
ENST00000487223.5:n.1756A>C
ENST00000492664.5:n.239A>C
ENST00000498027.5:n.337A>C
XR_002957688.1:n.4154A>C