Canonical Allele Identifier: CA42523178

Gene: ROCK2

Linked Data

• dbSNP Id: rs920495544
• gnomAD v2: 2-11354250-C-T
• gnomAD v3: 2-11214124-C-T
• gnomAD v4: 2-11214124-C-T
• MyVariant Identifiers: chr2:g.11354250C>T (hg19) ; chr2:g.11214124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11214124C>T , CM000664.2:g.11214124C>T	GRCh38
NC_000002.11:g.11354250C>T , CM000664.1:g.11354250C>T	GRCh37
NC_000002.10:g.11271701C>T	NCBI36
NG_029769.1:g.135462G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000697752.1:c.2043+233G>A	ENSP00000513431.1:n.2043+233G>A
ENST00000697790.1:c.354+233G>A	ENSP00000513442.1:n.354+233G>A
ENST00000697791.1:n.2403+233G>A
ENST00000697792.1:n.2403+233G>A
ENST00000315872.11:c.2043+233G>A MANE Select	ENSP00000317985.6:n.2043+233G>A
ENST00000315872.10:c.2043+233G>A	ENSP00000317985.6:n.2043+233G>A
ENST00000401753.5:c.1314+233G>A	ENSP00000385509.1:n.1314+233G>A
ENST00000616279.4:c.-13+233G>A	ENSP00000481789.1:n.-13+233G>A
NM_004850.3:c.2043+233G>A	NP_004841.2:n.2043+233G>A
XM_005246190.3:c.2043+233G>A	XP_005246247.1:n.2043+233G>A
XM_011510417.1:c.1785+233G>A	XP_011508719.1:n.1785+233G>A
NM_001321643.1:c.1785+233G>A	NP_001308572.1:n.1785+233G>A
NM_004850.4:c.2043+233G>A	NP_004841.2:n.2043+233G>A
XM_011510417.2:c.1785+233G>A	XP_011508719.1:n.1785+233G>A
XM_017005378.2:c.2043+233G>A	XP_016860867.1:n.2043+233G>A
XM_017005379.2:c.1785+233G>A	XP_016860868.1:n.1785+233G>A
NM_004850.5:c.2043+233G>A MANE Select	NP_004841.2:n.2043+233G>A
NM_001321643.2:c.1785+233G>A	NP_001308572.1:n.1785+233G>A