Canonical Allele Identifier: CA425389794

Gene: GTF3C2

Linked Data

• gnomAD v4: 2-27328112-G-T
• COSMIC: COSM6272047
• MyVariant Identifiers: chr2:g.27550979G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27328112G>T , CM000664.2:g.27328112G>T	GRCh38
NC_000002.11:g.27550979G>T , CM000664.1:g.27550979G>T	GRCh37
NC_000002.10:g.27404483G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264720.8:c.2334C>A MANE Select	ENSP00000264720.3:p.Val778=
ENST00000264720.7:c.2334C>A	ENSP00000264720.3:p.Val778=
ENST00000359541.6:c.2334C>A	ENSP00000352536.2:p.Val778=
ENST00000415683.2:c.601C>A
ENST00000454704.5:c.860C>A
ENST00000457098.5:c.214C>A
ENST00000495298.1:n.379C>A
NM_001035521.2:c.2334C>A	NP_001030598.1:p.Val778=
NM_001521.3:c.2334C>A	NP_001512.1:p.Val778=
XM_005264272.3:c.2451C>A	XP_005264329.1:p.Val817=
XM_005264273.2:c.2367C>A	XP_005264330.1:p.Val789=
XM_011532801.1:c.2679C>A	XP_011531103.1:p.Val893=
XM_011532802.1:c.2334C>A	XP_011531104.1:p.Val778=
NM_001318909.1:c.2367C>A	NP_001305838.1:p.Val789=
XM_005264272.5:c.2451C>A	XP_005264329.1:p.Val817=
NM_001035521.3:c.2334C>A MANE Select	NP_001030598.1:p.Val778=
NM_001318909.2:c.2367C>A	NP_001305838.1:p.Val789=
NM_001388380.1:c.2451C>A	NP_001375309.1:p.Val817=
NM_001521.4:c.2334C>A	NP_001512.1:p.Val778=
NM_001318909.4:c.2334C>A	NP_001305838.2:p.Val778=
NM_001388380.3:c.2334C>A	NP_001375309.2:p.Val778=
NM_001394503.1:c.2334C>A	NP_001381432.1:p.Val778=
NM_001394504.1:c.2334C>A	NP_001381433.1:p.Val778=
NM_001394505.1:c.2334C>A	NP_001381434.1:p.Val778=
NM_001394506.1:c.2334C>A	NP_001381435.1:p.Val778=
NM_001394507.1:c.2334C>A	NP_001381436.1:p.Val778=
NM_001394508.1:c.2334C>A	NP_001381437.1:p.Val778=
NM_001394509.1:c.2334C>A	NP_001381438.1:p.Val778=
NM_001394510.1:c.2334C>A	NP_001381439.1:p.Val778=
NM_001394511.1:c.2334C>A	NP_001381440.1:p.Val778=
NM_001394512.1:c.2322C>A	NP_001381441.1:p.Val774=
NM_001394514.1:c.2256C>A	NP_001381443.1:p.Val752=
NM_001394515.1:c.2178C>A	NP_001381444.1:p.Val726=
NM_001394516.1:c.2106C>A	NP_001381445.1:p.Val702=