Canonical Allele Identifier: CA2661800247

Gene: G6PC2 SPC25

Linked Data

• gnomAD v4: 2-168906573-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168906573T>C , CM000664.2:g.168906573T>C	GRCh38
NC_000002.11:g.169763083T>C , CM000664.1:g.169763083T>C	GRCh37
NC_000002.10:g.169471329T>C	NCBI36
NG_011682.1:g.10334T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375363.8:c.441-91T>C (G6PC2) MANE Select	ENSP00000364512.3:n.441-91T>C
ENST00000282075.5:c.*22-91T>C (G6PC2)	ENSP00000282075.4:n.*22-91T>C
ENST00000375363.7:c.441-91T>C (G6PC2)	ENSP00000364512.3:n.441-91T>C
ENST00000421979.1:c.219-995T>C (G6PC2)	ENSP00000392183.1:n.219-995T>C
ENST00000429379.2:c.441-995T>C (G6PC2)	ENSP00000396939.2:n.441-995T>C
ENST00000451987.5:c.-173+6627A>G (SPC25)	ENSP00000393322.1:n.-173+6627A>G
ENST00000461586.1:n.157-995T>C (G6PC2)
ENST00000472216.2:n.176+6623A>G (SPC25)
NM_001081686.1:c.441-995T>C (G6PC2)	NP_001075155.1:n.441-995T>C
NM_021176.2:c.441-91T>C (G6PC2)	NP_066999.1:n.441-91T>C
XM_011511564.1:c.329-995T>C (G6PC2)	XP_011509866.1:n.329-995T>C
XM_011511565.1:c.93-91T>C (G6PC2)	XP_011509867.1:n.93-91T>C
XM_011511564.3:c.329-995T>C (G6PC2)	XP_011509866.1:n.329-995T>C
XM_011511565.3:c.93-91T>C (G6PC2)	XP_011509867.1:n.93-91T>C
NM_001081686.2:c.441-995T>C (G6PC2)	NP_001075155.1:n.441-995T>C
NM_021176.3:c.441-91T>C (G6PC2) MANE Select	NP_066999.1:n.441-91T>C