Canonical Allele Identifier: CA425389788
Gene: GTF3C2 HGNC NCBI

Linked Data

dbSNP Id: rs2148242074
MyVariant Identifiers: chr2:g.27550970A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27328103A>G , CM000664.2:g.27328103A>G GRCh38
NC_000002.11:g.27550970A>G , CM000664.1:g.27550970A>G GRCh37
NC_000002.10:g.27404474A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000264720.8:c.2343T>C MANE Select ENSP00000264720.3:p.Pro781=
ENST00000264720.7:c.2343T>C ENSP00000264720.3:p.Pro781=
ENST00000359541.6:c.2343T>C ENSP00000352536.2:p.Pro781=
ENST00000415683.2:c.610T>C
ENST00000454704.5:c.869T>C
ENST00000457098.5:c.223T>C
ENST00000495298.1:n.388T>C
NM_001035521.2:c.2343T>C NP_001030598.1:p.Pro781=
NM_001521.3:c.2343T>C NP_001512.1:p.Pro781=
XM_005264272.3:c.2460T>C XP_005264329.1:p.Pro820=
XM_005264273.2:c.2376T>C XP_005264330.1:p.Pro792=
XM_011532801.1:c.2688T>C XP_011531103.1:p.Pro896=
XM_011532802.1:c.2343T>C XP_011531104.1:p.Pro781=
NM_001318909.1:c.2376T>C NP_001305838.1:p.Pro792=
XM_005264272.5:c.2460T>C XP_005264329.1:p.Pro820=
NM_001035521.3:c.2343T>C MANE Select NP_001030598.1:p.Pro781=
NM_001318909.2:c.2376T>C NP_001305838.1:p.Pro792=
NM_001388380.1:c.2460T>C NP_001375309.1:p.Pro820=
NM_001521.4:c.2343T>C NP_001512.1:p.Pro781=
NM_001318909.4:c.2343T>C NP_001305838.2:p.Pro781=
NM_001388380.3:c.2343T>C NP_001375309.2:p.Pro781=
NM_001394503.1:c.2343T>C NP_001381432.1:p.Pro781=
NM_001394504.1:c.2343T>C NP_001381433.1:p.Pro781=
NM_001394505.1:c.2343T>C NP_001381434.1:p.Pro781=
NM_001394506.1:c.2343T>C NP_001381435.1:p.Pro781=
NM_001394507.1:c.2343T>C NP_001381436.1:p.Pro781=
NM_001394508.1:c.2343T>C NP_001381437.1:p.Pro781=
NM_001394509.1:c.2343T>C NP_001381438.1:p.Pro781=
NM_001394510.1:c.2343T>C NP_001381439.1:p.Pro781=
NM_001394511.1:c.2343T>C NP_001381440.1:p.Pro781=
NM_001394512.1:c.2331T>C NP_001381441.1:p.Pro777=
NM_001394514.1:c.2265T>C NP_001381443.1:p.Pro755=
NM_001394515.1:c.2187T>C NP_001381444.1:p.Pro729=
NM_001394516.1:c.2115T>C NP_001381445.1:p.Pro705=