Canonical Allele Identifier: CA9234664

Gene: GCDH SYCE2

Linked Data

• dbSNP Id: rs771517320
• ExAC: 19:13010163 C / CA
• gnomAD v2: 19-13010163-C-CA
• gnomAD v4: 19-12899349-C-CA
• MyVariant Identifiers: chr19:g.13010163_13010164insA (hg19) ; chr19:g.12899349_12899350insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899350dup , CM000681.2:g.12899350dup	GRCh38
NC_000019.9:g.13010164dup , CM000681.1:g.13010164dup	GRCh37
NC_000019.8:g.12871164dup	NCBI36
NG_009292.1:g.13191dup
NG_033049.1:g.24923dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-118dup (GCDH) MANE Select	ENSP00000222214.4:n.1244-118dup
ENST00000293695.8:c.648dup (SYCE2) MANE Select	ENSP00000293695.6:p.Glu217Ter
ENST00000222214.9:c.1244-118dup (GCDH)	ENSP00000222214.4:n.1244-118dup
ENST00000293695.7:c.648dup (SYCE2)	ENSP00000293695.6:p.Glu217Ter
ENST00000585420.5:n.1574-118dup (GCDH)
ENST00000590530.5:c.*684-118dup (GCDH)	ENSP00000468452.1:n.*684-118dup
ENST00000591043.1:n.1554-118dup (GCDH)
ENST00000591050.1:c.210+1487dup (GCDH)
ENST00000591470.5:c.1244-118dup (GCDH)	ENSP00000466845.1:n.1244-118dup
ENST00000592819.1:c.221dup (SYCE2)
NM_000159.3:c.1244-118dup (GCDH)	NP_000150.1:n.1244-118dup
NM_001105578.1:c.648dup (SYCE2)	NP_001099048.1:p.Glu217Ter
NM_013976.3:c.1244-350dup (GCDH)	NP_039663.1:n.1244-350dup
NR_102316.1:n.1407-118dup (GCDH)
NR_102317.1:n.1625-118dup (GCDH)
XM_005259848.3:c.*58dup (SYCE2)	XP_005259905.1:n.*58dup
XM_006722721.2:c.1244-884dup (GCDH)	XP_006722784.1:n.1244-884dup
XM_011527882.1:c.645dup (SYCE2)	XP_011526184.1:p.Glu216Ter
XM_011527883.1:c.*58dup (SYCE2)	XP_011526185.1:n.*58dup
XM_011527899.1:c.1243+1487dup (GCDH)	XP_011526201.1:n.1243+1487dup
XM_011527900.1:c.1244-884dup (GCDH)	XP_011526202.1:n.1244-884dup
XM_005259848.4:c.*58dup (SYCE2)	XP_005259905.1:n.*58dup
XM_011527882.2:c.645dup (SYCE2)	XP_011526184.1:p.Glu216Ter
XM_011527883.2:c.*58dup (SYCE2)	XP_011526185.1:n.*58dup
XM_011527899.2:c.1243+1487dup (GCDH)	XP_011526201.1:n.1243+1487dup
XM_011527900.2:c.1244-884dup (GCDH)	XP_011526202.1:n.1244-884dup
XM_017026580.1:c.1244-884dup (GCDH)	XP_016882069.1:n.1244-884dup
NM_000159.4:c.1244-118dup (GCDH) MANE Select	NP_000150.1:n.1244-118dup
NM_001105578.2:c.648dup (SYCE2) MANE Select	NP_001099048.1:p.Glu217Ter
NM_013976.4:c.1244-350dup (GCDH)	NP_039663.1:n.1244-350dup
NM_013976.5:c.1244-350dup (GCDH)	NP_039663.1:n.1244-350dup