Canonical Allele Identifier: CA1575897

Gene: GTF3C2

Linked Data

• dbSNP Id: rs773923624
• ExAC: 2:27550976 G / A
• gnomAD v2: 2-27550976-G-A
• gnomAD v3: 2-27328109-G-A
• gnomAD v4: 2-27328109-G-A
• MyVariant Identifiers: chr2:g.27550976G>A (hg19) ; chr2:g.27328109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27328109G>A , CM000664.2:g.27328109G>A	GRCh38
NC_000002.11:g.27550976G>A , CM000664.1:g.27550976G>A	GRCh37
NC_000002.10:g.27404480G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264720.8:c.2337C>T MANE Select	ENSP00000264720.3:p.Pro779=
ENST00000264720.7:c.2337C>T	ENSP00000264720.3:p.Pro779=
ENST00000359541.6:c.2337C>T	ENSP00000352536.2:p.Pro779=
ENST00000415683.2:c.604C>T
ENST00000454704.5:c.863C>T
ENST00000457098.5:c.217C>T
ENST00000495298.1:n.382C>T
NM_001035521.2:c.2337C>T	NP_001030598.1:p.Pro779=
NM_001521.3:c.2337C>T	NP_001512.1:p.Pro779=
XM_005264272.3:c.2454C>T	XP_005264329.1:p.Pro818=
XM_005264273.2:c.2370C>T	XP_005264330.1:p.Pro790=
XM_011532801.1:c.2682C>T	XP_011531103.1:p.Pro894=
XM_011532802.1:c.2337C>T	XP_011531104.1:p.Pro779=
NM_001318909.1:c.2370C>T	NP_001305838.1:p.Pro790=
XM_005264272.5:c.2454C>T	XP_005264329.1:p.Pro818=
NM_001035521.3:c.2337C>T MANE Select	NP_001030598.1:p.Pro779=
NM_001318909.2:c.2370C>T	NP_001305838.1:p.Pro790=
NM_001388380.1:c.2454C>T	NP_001375309.1:p.Pro818=
NM_001521.4:c.2337C>T	NP_001512.1:p.Pro779=
NM_001318909.4:c.2337C>T	NP_001305838.2:p.Pro779=
NM_001388380.3:c.2337C>T	NP_001375309.2:p.Pro779=
NM_001394503.1:c.2337C>T	NP_001381432.1:p.Pro779=
NM_001394504.1:c.2337C>T	NP_001381433.1:p.Pro779=
NM_001394505.1:c.2337C>T	NP_001381434.1:p.Pro779=
NM_001394506.1:c.2337C>T	NP_001381435.1:p.Pro779=
NM_001394507.1:c.2337C>T	NP_001381436.1:p.Pro779=
NM_001394508.1:c.2337C>T	NP_001381437.1:p.Pro779=
NM_001394509.1:c.2337C>T	NP_001381438.1:p.Pro779=
NM_001394510.1:c.2337C>T	NP_001381439.1:p.Pro779=
NM_001394511.1:c.2337C>T	NP_001381440.1:p.Pro779=
NM_001394512.1:c.2325C>T	NP_001381441.1:p.Pro775=
NM_001394514.1:c.2259C>T	NP_001381443.1:p.Pro753=
NM_001394515.1:c.2181C>T	NP_001381444.1:p.Pro727=
NM_001394516.1:c.2109C>T	NP_001381445.1:p.Pro703=