Canonical Allele Identifier: CA857336

Gene: SCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.53014919C>T , CM000663.2:g.53014919C>T	GRCh38
NC_000001.10:g.53480591C>T , CM000663.1:g.53480591C>T	GRCh37
NC_000001.9:g.53253179C>T	NCBI36
NG_012211.1:g.92644C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002979.5:c.1111C>T MANE Select	NP_002970.2:p.Gln371Ter
ENST00000371514.8:c.1111C>T MANE Select	ENSP00000360569.3:p.Gln371Ter
NM_001193599.1:c.1039C>T	NP_001180528.1:p.Gln347Ter
NM_001193599.2:c.1039C>T	NP_001180528.1:p.Gln347Ter
NM_001193600.1:c.979C>T	NP_001180529.1:p.Gln327Ter
NM_001193600.2:c.979C>T	NP_001180529.1:p.Gln327Ter
NM_001193617.1:c.868C>T	NP_001180546.1:p.Gln290Ter
NM_001193617.2:c.868C>T	NP_001180546.1:p.Gln290Ter
NM_002979.4:c.1111C>T	NP_002970.2:p.Gln371Ter
ENST00000371509.8:c.979C>T	ENSP00000360564.4:p.Gln327Ter
ENST00000371514.7:c.1111C>T	ENSP00000360569.3:p.Gln371Ter
ENST00000407246.6:c.1039C>T	ENSP00000384569.2:p.Gln347Ter
ENST00000478631.6:c.*2753C>T	ENSP00000435194.1:n.*2753C>T
ENST00000528311.5:c.868C>T	ENSP00000434132.1:p.Gln290Ter
XM_005271103.3:c.1111C>T	XP_005271160.1:p.Gln371Ter
XM_005271103.4:c.1111C>T	XP_005271160.1:p.Gln371Ter