Canonical Allele Identifier: CA1575881

Gene: GTF3C2

Linked Data

• dbSNP Id: rs776901167
• ExAC: 2:27550874 A / G
• gnomAD v2: 2-27550874-A-G
• gnomAD v4: 2-27328007-A-G
• MyVariant Identifiers: chr2:g.27550874A>G (hg19) ; chr2:g.27328007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27328007A>G , CM000664.2:g.27328007A>G	GRCh38
NC_000002.11:g.27550874A>G , CM000664.1:g.27550874A>G	GRCh37
NC_000002.10:g.27404378A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000264720.8:c.2409+30T>C MANE Select	ENSP00000264720.3:n.2409+30T>C
ENST00000264720.7:c.2409+30T>C	ENSP00000264720.3:n.2409+30T>C
ENST00000359541.6:c.2409+30T>C	ENSP00000352536.2:n.2409+30T>C
ENST00000415683.2:c.676+30T>C
ENST00000431028.5:c.53+30T>C
ENST00000454704.5:c.935+30T>C
ENST00000457098.5:c.289+30T>C
ENST00000495298.1:n.454+30T>C
NM_001035521.2:c.2409+30T>C	NP_001030598.1:n.2409+30T>C
NM_001521.3:c.2409+30T>C	NP_001512.1:n.2409+30T>C
XM_005264272.3:c.2526+30T>C	XP_005264329.1:n.2526+30T>C
XM_005264273.2:c.2442+30T>C	XP_005264330.1:n.2442+30T>C
XM_011532801.1:c.2754+30T>C	XP_011531103.1:n.2754+30T>C
XM_011532802.1:c.2409+30T>C	XP_011531104.1:n.2409+30T>C
NM_001318909.1:c.2442+30T>C	NP_001305838.1:n.2442+30T>C
XM_005264272.5:c.2526+30T>C	XP_005264329.1:n.2526+30T>C
NM_001035521.3:c.2409+30T>C MANE Select	NP_001030598.1:n.2409+30T>C
NM_001318909.2:c.2442+30T>C	NP_001305838.1:n.2442+30T>C
NM_001388380.1:c.2526+30T>C	NP_001375309.1:n.2526+30T>C
NM_001521.4:c.2409+30T>C	NP_001512.1:n.2409+30T>C
NM_001318909.4:c.2409+30T>C	NP_001305838.2:n.2409+30T>C
NM_001388380.3:c.2409+30T>C	NP_001375309.2:n.2409+30T>C
NM_001394503.1:c.2409+30T>C	NP_001381432.1:n.2409+30T>C
NM_001394504.1:c.2409+30T>C	NP_001381433.1:n.2409+30T>C
NM_001394505.1:c.2409+30T>C	NP_001381434.1:n.2409+30T>C
NM_001394506.1:c.2409+30T>C	NP_001381435.1:n.2409+30T>C
NM_001394507.1:c.2409+30T>C	NP_001381436.1:n.2409+30T>C
NM_001394508.1:c.2409+30T>C	NP_001381437.1:n.2409+30T>C
NM_001394509.1:c.2409+30T>C	NP_001381438.1:n.2409+30T>C
NM_001394510.1:c.2409+30T>C	NP_001381439.1:n.2409+30T>C
NM_001394511.1:c.2409+30T>C	NP_001381440.1:n.2409+30T>C
NM_001394512.1:c.2397+30T>C	NP_001381441.1:n.2397+30T>C
NM_001394514.1:c.2331+30T>C	NP_001381443.1:n.2331+30T>C
NM_001394515.1:c.2253+30T>C	NP_001381444.1:n.2253+30T>C
NM_001394516.1:c.2181+30T>C	NP_001381445.1:n.2181+30T>C