Canonical Allele Identifier: CA531428297

Gene: GCKR

Linked Data

• dbSNP Id: rs1365407355
• gnomAD v2: 2-27742604-G-A
• gnomAD v3: 2-27519737-G-A
• gnomAD v4: 2-27519737-G-A
• MyVariant Identifiers: chr2:g.27742604G>A (hg19) ; chr2:g.27519737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27519737G>A , CM000664.2:g.27519737G>A	GRCh38
NC_000002.11:g.27742604G>A , CM000664.1:g.27742604G>A	GRCh37
NC_000002.10:g.27596108G>A	NCBI36
NG_028024.1:g.27899G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264717.7:c.1572+800G>A MANE Select	ENSP00000264717.2:n.1572+800G>A
ENST00000264717.6:c.1572+800G>A	ENSP00000264717.2:n.1572+800G>A
NM_001486.3:c.1572+800G>A	NP_001477.2:n.1572+800G>A
XM_011532761.1:c.1419+800G>A	XP_011531063.1:n.1419+800G>A
XM_011532762.1:c.1002+800G>A	XP_011531064.1:n.1002+800G>A
XM_017003796.1:c.1002+800G>A	XP_016859285.1:n.1002+800G>A
XM_017003797.1:c.1002+800G>A	XP_016859286.1:n.1002+800G>A
NM_001486.4:c.1572+800G>A MANE Select	NP_001477.2:n.1572+800G>A