Canonical Allele Identifier: CA346168883

Gene: GTF3C2

Linked Data

• MyVariant Identifiers: chr2:g.27550977G>A (hg19) ; chr2:g.27328110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27328110G>A , CM000664.2:g.27328110G>A	GRCh38
NC_000002.11:g.27550977G>A , CM000664.1:g.27550977G>A	GRCh37
NC_000002.10:g.27404481G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264720.8:c.2336C>T MANE Select	ENSP00000264720.3:p.Pro779Leu
ENST00000264720.7:c.2336C>T	ENSP00000264720.3:p.Pro779Leu
ENST00000359541.6:c.2336C>T	ENSP00000352536.2:p.Pro779Leu
ENST00000415683.2:c.603C>T
ENST00000454704.5:c.862C>T
ENST00000457098.5:c.216C>T
ENST00000495298.1:n.381C>T
NM_001035521.2:c.2336C>T	NP_001030598.1:p.Pro779Leu
NM_001521.3:c.2336C>T	NP_001512.1:p.Pro779Leu
XM_005264272.3:c.2453C>T	XP_005264329.1:p.Pro818Leu
XM_005264273.2:c.2369C>T	XP_005264330.1:p.Pro790Leu
XM_011532801.1:c.2681C>T	XP_011531103.1:p.Pro894Leu
XM_011532802.1:c.2336C>T	XP_011531104.1:p.Pro779Leu
NM_001318909.1:c.2369C>T	NP_001305838.1:p.Pro790Leu
XM_005264272.5:c.2453C>T	XP_005264329.1:p.Pro818Leu
NM_001035521.3:c.2336C>T MANE Select	NP_001030598.1:p.Pro779Leu
NM_001318909.2:c.2369C>T	NP_001305838.1:p.Pro790Leu
NM_001388380.1:c.2453C>T	NP_001375309.1:p.Pro818Leu
NM_001521.4:c.2336C>T	NP_001512.1:p.Pro779Leu
NM_001318909.4:c.2336C>T	NP_001305838.2:p.Pro779Leu
NM_001388380.3:c.2336C>T	NP_001375309.2:p.Pro779Leu
NM_001394503.1:c.2336C>T	NP_001381432.1:p.Pro779Leu
NM_001394504.1:c.2336C>T	NP_001381433.1:p.Pro779Leu
NM_001394505.1:c.2336C>T	NP_001381434.1:p.Pro779Leu
NM_001394506.1:c.2336C>T	NP_001381435.1:p.Pro779Leu
NM_001394507.1:c.2336C>T	NP_001381436.1:p.Pro779Leu
NM_001394508.1:c.2336C>T	NP_001381437.1:p.Pro779Leu
NM_001394509.1:c.2336C>T	NP_001381438.1:p.Pro779Leu
NM_001394510.1:c.2336C>T	NP_001381439.1:p.Pro779Leu
NM_001394511.1:c.2336C>T	NP_001381440.1:p.Pro779Leu
NM_001394512.1:c.2324C>T	NP_001381441.1:p.Pro775Leu
NM_001394514.1:c.2258C>T	NP_001381443.1:p.Pro753Leu
NM_001394515.1:c.2180C>T	NP_001381444.1:p.Pro727Leu
NM_001394516.1:c.2108C>T	NP_001381445.1:p.Pro703Leu