Canonical Allele Identifier: CA1039034506

Gene: G6PC2 SPC25

Linked Data

• dbSNP Id: rs1690718448
• gnomAD v3: 2-168906645-A-G
• gnomAD v4: 2-168906645-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168906645A>G , CM000664.2:g.168906645A>G	GRCh38
NC_000002.11:g.169763155A>G , CM000664.1:g.169763155A>G	GRCh37
NC_000002.10:g.169471401A>G	NCBI36
NG_011682.1:g.10406A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375363.8:c.441-19A>G (G6PC2) MANE Select	ENSP00000364512.3:n.441-19A>G
ENST00000282075.5:c.*22-19A>G (G6PC2)	ENSP00000282075.4:n.*22-19A>G
ENST00000375363.7:c.441-19A>G (G6PC2)	ENSP00000364512.3:n.441-19A>G
ENST00000421979.1:c.219-923A>G (G6PC2)	ENSP00000392183.1:n.219-923A>G
ENST00000429379.2:c.441-923A>G (G6PC2)	ENSP00000396939.2:n.441-923A>G
ENST00000451987.5:c.-173+6555T>C (SPC25)	ENSP00000393322.1:n.-173+6555T>C
ENST00000461586.1:n.157-923A>G (G6PC2)
ENST00000472216.2:n.176+6551T>C (SPC25)
NM_001081686.1:c.441-923A>G (G6PC2)	NP_001075155.1:n.441-923A>G
NM_021176.2:c.441-19A>G (G6PC2)	NP_066999.1:n.441-19A>G
XM_011511564.1:c.329-923A>G (G6PC2)	XP_011509866.1:n.329-923A>G
XM_011511565.1:c.93-19A>G (G6PC2)	XP_011509867.1:n.93-19A>G
XM_011511564.3:c.329-923A>G (G6PC2)	XP_011509866.1:n.329-923A>G
XM_011511565.3:c.93-19A>G (G6PC2)	XP_011509867.1:n.93-19A>G
NM_001081686.2:c.441-923A>G (G6PC2)	NP_001075155.1:n.441-923A>G
NM_021176.3:c.441-19A>G (G6PC2) MANE Select	NP_066999.1:n.441-19A>G