Canonical Allele Identifier: CA767408133

Gene: GCKR

Linked Data

• dbSNP Id: rs1163590697
• gnomAD v3: 2-27519755-C-T
• gnomAD v4: 2-27519755-C-T
• MyVariant Identifiers: chr2:g.27742622C>T (hg19) ; chr2:g.27519755C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27519755C>T , CM000664.2:g.27519755C>T	GRCh38
NC_000002.11:g.27742622C>T , CM000664.1:g.27742622C>T	GRCh37
NC_000002.10:g.27596126C>T	NCBI36
NG_028024.1:g.27917C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264717.7:c.1572+818C>T MANE Select	ENSP00000264717.2:n.1572+818C>T
ENST00000264717.6:c.1572+818C>T	ENSP00000264717.2:n.1572+818C>T
NM_001486.3:c.1572+818C>T	NP_001477.2:n.1572+818C>T
XM_011532761.1:c.1419+818C>T	XP_011531063.1:n.1419+818C>T
XM_011532762.1:c.1002+818C>T	XP_011531064.1:n.1002+818C>T
XM_017003796.1:c.1002+818C>T	XP_016859285.1:n.1002+818C>T
XM_017003797.1:c.1002+818C>T	XP_016859286.1:n.1002+818C>T
NM_001486.4:c.1572+818C>T MANE Select	NP_001477.2:n.1572+818C>T