Canonical Allele Identifier: CA346168890

Gene: GTF3C2

Linked Data

• gnomAD v4: 2-27328111-G-C
• MyVariant Identifiers: chr2:g.27550978G>C (hg19) ; chr2:g.27328111G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27328111G>C , CM000664.2:g.27328111G>C	GRCh38
NC_000002.11:g.27550978G>C , CM000664.1:g.27550978G>C	GRCh37
NC_000002.10:g.27404482G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264720.8:c.2335C>G MANE Select	ENSP00000264720.3:p.Pro779Ala
ENST00000264720.7:c.2335C>G	ENSP00000264720.3:p.Pro779Ala
ENST00000359541.6:c.2335C>G	ENSP00000352536.2:p.Pro779Ala
ENST00000415683.2:c.602C>G
ENST00000454704.5:c.861C>G
ENST00000457098.5:c.215C>G
ENST00000495298.1:n.380C>G
NM_001035521.2:c.2335C>G	NP_001030598.1:p.Pro779Ala
NM_001521.3:c.2335C>G	NP_001512.1:p.Pro779Ala
XM_005264272.3:c.2452C>G	XP_005264329.1:p.Pro818Ala
XM_005264273.2:c.2368C>G	XP_005264330.1:p.Pro790Ala
XM_011532801.1:c.2680C>G	XP_011531103.1:p.Pro894Ala
XM_011532802.1:c.2335C>G	XP_011531104.1:p.Pro779Ala
NM_001318909.1:c.2368C>G	NP_001305838.1:p.Pro790Ala
XM_005264272.5:c.2452C>G	XP_005264329.1:p.Pro818Ala
NM_001035521.3:c.2335C>G MANE Select	NP_001030598.1:p.Pro779Ala
NM_001318909.2:c.2368C>G	NP_001305838.1:p.Pro790Ala
NM_001388380.1:c.2452C>G	NP_001375309.1:p.Pro818Ala
NM_001521.4:c.2335C>G	NP_001512.1:p.Pro779Ala
NM_001318909.4:c.2335C>G	NP_001305838.2:p.Pro779Ala
NM_001388380.3:c.2335C>G	NP_001375309.2:p.Pro779Ala
NM_001394503.1:c.2335C>G	NP_001381432.1:p.Pro779Ala
NM_001394504.1:c.2335C>G	NP_001381433.1:p.Pro779Ala
NM_001394505.1:c.2335C>G	NP_001381434.1:p.Pro779Ala
NM_001394506.1:c.2335C>G	NP_001381435.1:p.Pro779Ala
NM_001394507.1:c.2335C>G	NP_001381436.1:p.Pro779Ala
NM_001394508.1:c.2335C>G	NP_001381437.1:p.Pro779Ala
NM_001394509.1:c.2335C>G	NP_001381438.1:p.Pro779Ala
NM_001394510.1:c.2335C>G	NP_001381439.1:p.Pro779Ala
NM_001394511.1:c.2335C>G	NP_001381440.1:p.Pro779Ala
NM_001394512.1:c.2323C>G	NP_001381441.1:p.Pro775Ala
NM_001394514.1:c.2257C>G	NP_001381443.1:p.Pro753Ala
NM_001394515.1:c.2179C>G	NP_001381444.1:p.Pro727Ala
NM_001394516.1:c.2107C>G	NP_001381445.1:p.Pro703Ala