Canonical Allele Identifier: CA531428299

Gene: GCKR

Linked Data

• dbSNP Id: rs1470736116
• gnomAD v2: 2-27742651-T-G
• gnomAD v3: 2-27519784-T-G
• gnomAD v4: 2-27519784-T-G
• MyVariant Identifiers: chr2:g.27742651T>G (hg19) ; chr2:g.27519784T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27519784T>G , CM000664.2:g.27519784T>G	GRCh38
NC_000002.11:g.27742651T>G , CM000664.1:g.27742651T>G	GRCh37
NC_000002.10:g.27596155T>G	NCBI36
NG_028024.1:g.27946T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264717.7:c.1572+847T>G MANE Select	ENSP00000264717.2:n.1572+847T>G
ENST00000264717.6:c.1572+847T>G	ENSP00000264717.2:n.1572+847T>G
NM_001486.3:c.1572+847T>G	NP_001477.2:n.1572+847T>G
XM_011532761.1:c.1419+847T>G	XP_011531063.1:n.1419+847T>G
XM_011532762.1:c.1002+847T>G	XP_011531064.1:n.1002+847T>G
XM_017003796.1:c.1002+847T>G	XP_016859285.1:n.1002+847T>G
XM_017003797.1:c.1002+847T>G	XP_016859286.1:n.1002+847T>G
NM_001486.4:c.1572+847T>G MANE Select	NP_001477.2:n.1572+847T>G