Canonical Allele Identifier: CA1556501848

Gene: SV2C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.76326989C= , CM000667.2:g.76326989C=	GRCh38
NC_000005.9:g.75622814C= , CM000667.1:g.75622814C=	GRCh37
NC_000005.8:g.75658570C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014979.4:c.*1442C= MANE Select	NP_055794.3:n.*1442C=
ENST00000502798.7:c.*1442C= MANE Select	ENSP00000423541.2:n.*1442C=
NM_001297716.1:c.2000+25444C=	NP_001284645.1:n.2000+25444C=
NM_001297716.2:c.2000+25444C=	NP_001284645.1:n.2000+25444C=
NM_014979.3:c.*1442C=	NP_055794.3:n.*1442C=
ENST00000322285.7:c.2000+25444C=	ENSP00000316983.7:n.2000+25444C=
ENST00000502798.6:c.*1442C=	ENSP00000423541.2:n.*1442C=
XM_011543281.1:c.*1442C=	XP_011541583.1:n.*1442C=
XM_011543281.3:c.*1442C=	XP_011541583.1:n.*1442C=
XM_011543282.1:c.*1442C=	XP_011541584.1:n.*1442C=
XM_011543282.3:c.*1442C=	XP_011541584.2:n.*1442C=
XM_017009244.2:c.*1442C=	XP_016864733.1:n.*1442C=