Canonical Allele Identifier: CA2617922029

Gene: GYS2

Linked Data

• gnomAD v4: 12-21542493-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21542493C>G , CM000674.2:g.21542493C>G	GRCh38
NC_000012.11:g.21695427C>G , CM000674.1:g.21695427C>G	GRCh37
NC_000012.10:g.21586694C>G	NCBI36
NG_016167.1:g.67355G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.1645+3G>C MANE Select	ENSP00000261195.2:n.1645+3G>C
ENST00000647960.1:c.*1647+3G>C	ENSP00000497202.1:n.*1647+3G>C
ENST00000261195.2:c.1645+3G>C	ENSP00000261195.2:n.1645+3G>C
NM_021957.3:c.1645+3G>C	NP_068776.2:n.1645+3G>C
XM_005253352.1:c.1645+3G>C	XP_005253409.1:n.1645+3G>C
XM_005253354.2:c.1426+3G>C	XP_005253411.1:n.1426+3G>C
XM_006719062.2:c.1645+3G>C	XP_006719125.1:n.1645+3G>C
XM_006719063.2:c.1414+3G>C	XP_006719126.1:n.1414+3G>C
NM_021957.4:c.1645+3G>C MANE Select	NP_068776.2:n.1645+3G>C
XM_006719063.3:c.1414+3G>C	XP_006719126.1:n.1414+3G>C
XM_024448960.1:c.1645+3G>C	XP_024304728.1:n.1645+3G>C