Canonical Allele Identifier: CA66728185

Gene: SP110

Linked Data

• dbSNP Id: rs918279119
• gnomAD v4: 2-230169025-G-C
• MyVariant Identifiers: chr2:g.231033741G>C (hg19) ; chr2:g.230169025G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230169025G>C , CM000664.2:g.230169025G>C	GRCh38
NC_000002.11:g.231033741G>C , CM000664.1:g.231033741G>C	GRCh37
NC_000002.10:g.230741985G>C	NCBI36
NG_008295.1:g.56087C>G , LRG_109:g.56087C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698099.1:c.*77+22C>G	ENSP00000513563.1:n.*77+22C>G
ENST00000698100.1:c.*77+22C>G	ENSP00000513564.1:n.*77+22C>G
ENST00000258381.11:c.*99C>G MANE Select	ENSP00000258381.6:n.*99C>G
ENST00000358662.9:c.*99C>G	ENSP00000351488.4:n.*99C>G
ENST00000258381.10:c.*99C>G	ENSP00000258381.6:n.*99C>G
ENST00000358662.8:c.*99C>G	ENSP00000351488.4:n.*99C>G
ENST00000477068.1:n.993C>G
ENST00000480916.1:n.492C>G
ENST00000483067.1:n.460C>G
NM_004509.3:c.*99C>G	NP_004500.3:n.*99C>G
NM_080424.2:c.*99C>G , LRG_109t1:c.*99C>G	NP_536349.2:n.*99C>G
XM_005246525.2:c.*99C>G	XP_005246582.1:n.*99C>G
XM_006712487.2:c.*99C>G	XP_006712550.1:n.*99C>G
XM_006712489.2:c.*99C>G	XP_006712552.1:n.*99C>G
XM_011511088.1:c.*99C>G	XP_011509390.1:n.*99C>G
XM_011511089.1:c.*99C>G	XP_011509391.1:n.*99C>G
XM_011511090.1:c.*99C>G	XP_011509392.1:n.*99C>G
XM_011511091.1:c.*99C>G	XP_011509393.1:n.*99C>G
XM_011511092.1:c.*99C>G	XP_011509394.1:n.*99C>G
XM_005246525.4:c.*99C>G	XP_005246582.1:n.*99C>G
XM_006712487.3:c.*99C>G	XP_006712550.1:n.*99C>G
XM_006712489.4:c.*99C>G	XP_006712552.1:n.*99C>G
XM_011511088.3:c.*99C>G	XP_011509390.1:n.*99C>G
XM_011511089.3:c.*99C>G	XP_011509391.1:n.*99C>G
XM_011511090.3:c.*99C>G	XP_011509392.1:n.*99C>G
XM_011511091.3:c.*99C>G	XP_011509393.1:n.*99C>G
XM_011511092.3:c.*99C>G	XP_011509394.1:n.*99C>G
XM_017003968.2:c.*99C>G	XP_016859457.1:n.*99C>G
XM_024452850.1:c.*99C>G	XP_024308618.1:n.*99C>G
NM_004509.4:c.*99C>G	NP_004500.4:n.*99C>G
NM_080424.3:c.*99C>G	NP_536349.3:n.*99C>G
NM_001378442.1:c.*99C>G	NP_001365371.1:n.*99C>G
NM_001378443.1:c.*99C>G	NP_001365372.1:n.*99C>G
NM_001378444.1:c.*99C>G	NP_001365373.1:n.*99C>G
NM_001378445.1:c.*99C>G	NP_001365374.1:n.*99C>G
NM_001378446.1:c.*99C>G	NP_001365375.1:n.*99C>G
NM_004509.5:c.*99C>G	NP_004500.4:n.*99C>G
NM_080424.4:c.*99C>G MANE Select	NP_536349.3:n.*99C>G