Canonical Allele Identifier: CA631852996

Gene: GCDH SYCE2

Linked Data

• dbSNP Id: rs1182063540
• gnomAD v2: 19-13010034-G-GT
• gnomAD v3: 19-12899220-G-GT
• gnomAD v4: 19-12899220-G-GT
• MyVariant Identifiers: chr19:g.13010034_13010035insT (hg19) ; chr19:g.12899220_12899221insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899227dup , CM000681.2:g.12899227dup	GRCh38
NC_000019.9:g.13010041dup , CM000681.1:g.13010041dup	GRCh37
NC_000019.8:g.12871041dup	NCBI36
NG_009292.1:g.13068dup
NG_033049.1:g.25052dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-241dup (GCDH) MANE Select	ENSP00000222214.4:n.1244-241dup
ENST00000293695.8:c.*120dup (SYCE2) MANE Select	ENSP00000293695.6:n.*120dup
ENST00000222214.9:c.1244-241dup (GCDH)	ENSP00000222214.4:n.1244-241dup
ENST00000293695.7:c.*120dup (SYCE2)	ENSP00000293695.6:n.*120dup
ENST00000585420.5:n.1574-241dup (GCDH)
ENST00000590530.5:c.*684-241dup (GCDH)	ENSP00000468452.1:n.*684-241dup
ENST00000591043.1:n.1554-241dup (GCDH)
ENST00000591050.1:c.210+1364dup (GCDH)
ENST00000591470.5:c.1244-241dup (GCDH)	ENSP00000466845.1:n.1244-241dup
ENST00000592819.1:c.350dup (SYCE2)
NM_000159.3:c.1244-241dup (GCDH)	NP_000150.1:n.1244-241dup
NM_001105578.1:c.*120dup (SYCE2)	NP_001099048.1:n.*120dup
NM_013976.3:c.1244-473dup (GCDH)	NP_039663.1:n.1244-473dup
NR_102316.1:n.1407-241dup (GCDH)
NR_102317.1:n.1625-241dup (GCDH)
XM_006722721.2:c.1244-1007dup (GCDH)	XP_006722784.1:n.1244-1007dup
XM_011527882.1:c.*120dup (SYCE2)	XP_011526184.1:n.*120dup
XM_011527883.1:c.*187dup (SYCE2)	XP_011526185.1:n.*187dup
XM_011527899.1:c.1243+1364dup (GCDH)	XP_011526201.1:n.1243+1364dup
XM_011527900.1:c.1244-1007dup (GCDH)	XP_011526202.1:n.1244-1007dup
XM_005259848.4:c.*187dup (SYCE2)	XP_005259905.1:n.*187dup
XM_011527882.2:c.*120dup (SYCE2)	XP_011526184.1:n.*120dup
XM_011527883.2:c.*187dup (SYCE2)	XP_011526185.1:n.*187dup
XM_011527899.2:c.1243+1364dup (GCDH)	XP_011526201.1:n.1243+1364dup
XM_011527900.2:c.1244-1007dup (GCDH)	XP_011526202.1:n.1244-1007dup
XM_017026580.1:c.1244-1007dup (GCDH)	XP_016882069.1:n.1244-1007dup
NM_000159.4:c.1244-241dup (GCDH) MANE Select	NP_000150.1:n.1244-241dup
NM_001105578.2:c.*120dup (SYCE2) MANE Select	NP_001099048.1:n.*120dup
NM_013976.4:c.1244-473dup (GCDH)	NP_039663.1:n.1244-473dup
NM_013976.5:c.1244-473dup (GCDH)	NP_039663.1:n.1244-473dup