Canonical Allele Identifier: CA345424514

Gene: RYR2

Linked Data

• MyVariant Identifiers: chr1:g.237972317A>C (hg19) ; chr1:g.237809017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.237809017A>C , CM000663.2:g.237809017A>C	GRCh38
NC_000001.10:g.237972317A>C , CM000663.1:g.237972317A>C	GRCh37
NC_000001.9:g.236038940A>C	NCBI36
NG_008799.2:g.771616A>C
NG_008799.3:g.771834A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609119.2:c.*5507A>C	ENSP00000499659.2:n.*5507A>C
ENST00000659194.3:c.14397A>C	ENSP00000499653.3:p.Lys4799Asn
ENST00000660292.2:c.14436A>C	ENSP00000499787.2:p.Lys4812Asn
ENST00000659194.2:c.6586A>C
ENST00000366574.7:c.14415A>C MANE Select	ENSP00000355533.2:p.Lys4805Asn
ENST00000360064.7:c.14364A>C	ENSP00000353174.7:p.Lys4788Asn
ENST00000366574.6:c.14415A>C	ENSP00000355533.2:p.Lys4805Asn
ENST00000608590.5:n.926A>C
NM_001035.2:c.14415A>C	NP_001026.2:p.Lys4805Asn
XM_006711802.2:c.14469A>C	XP_006711865.1:p.Lys4823Asn
XM_006711803.2:c.14466A>C	XP_006711866.1:p.Lys4822Asn
XM_006711804.2:c.14445A>C	XP_006711867.1:p.Lys4815Asn
XM_006711805.2:c.14439A>C	XP_006711868.1:p.Lys4813Asn
XM_006711806.2:c.14433A>C	XP_006711869.1:p.Lys4811Asn
XM_006711807.2:c.14409A>C	XP_006711870.1:p.Lys4803Asn
XM_006711808.2:c.14232A>C	XP_006711871.1:p.Lys4744Asn
XM_006711810.2:c.14376A>C	XP_006711873.1:p.Lys4792Asn
XM_006711802.3:c.14469A>C	XP_006711865.1:p.Lys4823Asn
XM_006711803.3:c.14466A>C	XP_006711866.1:p.Lys4822Asn
XM_006711804.3:c.14445A>C	XP_006711867.1:p.Lys4815Asn
XM_006711805.3:c.14439A>C	XP_006711868.1:p.Lys4813Asn
XM_006711806.3:c.14433A>C	XP_006711869.1:p.Lys4811Asn
XM_006711807.3:c.14409A>C	XP_006711870.1:p.Lys4803Asn
XM_006711808.3:c.14232A>C	XP_006711871.1:p.Lys4744Asn
XM_006711810.3:c.14376A>C	XP_006711873.1:p.Lys4792Asn
XM_017002028.1:c.14448A>C	XP_016857517.1:p.Lys4816Asn
NM_001035.3:c.14415A>C MANE Select	NP_001026.2:p.Lys4805Asn