Canonical Allele Identifier: CA755231542

Gene: ROCK2

Linked Data

• dbSNP Id: rs70953378
• gnomAD v3: 2-11268522-CTGTGTGTGTGTGTG-C
• gnomAD v4: 2-11268522-CTGTGTGTGTGTGTG-C
• MyVariant Identifiers: chr2:g.11408649_11408662del (hg19) ; chr2:g.11268523_11268536del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11268544_11268557del , CM000664.2:g.11268544_11268557del	GRCh38
NC_000002.11:g.11408670_11408683del , CM000664.1:g.11408670_11408683del	GRCh37
NC_000002.10:g.11326121_11326134del	NCBI36
NG_029769.1:g.81050_81063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431087.2:c.183+18003_183+18016del	ENSP00000395957.2:n.183+18003_183+18016del
ENST00000697752.1:c.324+18003_324+18016del	ENSP00000513431.1:n.324+18003_324+18016del
ENST00000315872.11:c.324+18003_324+18016del MANE Select	ENSP00000317985.6:n.324+18003_324+18016del
ENST00000261535.7:c.324+18003_324+18016del	ENSP00000261535.3:n.324+18003_324+18016del
ENST00000315872.10:c.324+18003_324+18016del	ENSP00000317985.6:n.324+18003_324+18016del
ENST00000431087.1:c.66+18003_66+18016del	ENSP00000395957.1:n.66+18003_66+18016del
ENST00000462366.1:n.346+18003_346+18016del
ENST00000616279.4:c.-1732+18003_-1732+18016del	ENSP00000481789.1:n.-1732+18003_-1732+18016del
NM_004850.3:c.324+18003_324+18016del	NP_004841.2:n.324+18003_324+18016del
XM_005246190.3:c.324+18003_324+18016del	XP_005246247.1:n.324+18003_324+18016del
XM_011510417.1:c.66+18003_66+18016del	XP_011508719.1:n.66+18003_66+18016del
NM_001321643.1:c.66+18003_66+18016del	NP_001308572.1:n.66+18003_66+18016del
NM_004850.4:c.324+18003_324+18016del	NP_004841.2:n.324+18003_324+18016del
XM_011510417.2:c.66+18003_66+18016del	XP_011508719.1:n.66+18003_66+18016del
XM_017005378.2:c.324+18003_324+18016del	XP_016860867.1:n.324+18003_324+18016del
XM_017005379.2:c.66+18003_66+18016del	XP_016860868.1:n.66+18003_66+18016del
NM_004850.5:c.324+18003_324+18016del MANE Select	NP_004841.2:n.324+18003_324+18016del
NM_001321643.2:c.66+18003_66+18016del	NP_001308572.1:n.66+18003_66+18016del