Canonical Allele Identifier: CA531051922

Gene: ROCK2

Linked Data

• dbSNP Id: rs1558343687
• gnomAD v2: 2-11408674-G-GTGTGTT
• gnomAD v3: 2-11268548-G-GTGTGTT
• gnomAD v4: 2-11268548-G-GTGTGTT
• MyVariant Identifiers: chr2:g.11408680_11408684delinsTTGTGTGTGTC (hg19) ; chr2:g.11268554_11268558delinsTTGTGTGTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.11268553_11268554insTTGTGT , CM000664.2:g.11268553_11268554insTTGTGT	GRCh38
NC_000002.11:g.11408679_11408680insTTGTGT , CM000664.1:g.11408679_11408680insTTGTGT	GRCh37
NC_000002.10:g.11326130_11326131insTTGTGT	NCBI36
NG_029769.1:g.81037_81038insAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000431087.2:c.183+17990_183+17991insAACACA	ENSP00000395957.2:n.183+17990_183+17991insAACACA
ENST00000697752.1:c.324+17990_324+17991insAACACA	ENSP00000513431.1:n.324+17990_324+17991insAACACA
ENST00000315872.11:c.324+17990_324+17991insAACACA MANE Select	ENSP00000317985.6:n.324+17990_324+17991insAACACA
ENST00000261535.7:c.324+17990_324+17991insAACACA	ENSP00000261535.3:n.324+17990_324+17991insAACACA
ENST00000315872.10:c.324+17990_324+17991insAACACA	ENSP00000317985.6:n.324+17990_324+17991insAACACA
ENST00000431087.1:c.66+17990_66+17991insAACACA	ENSP00000395957.1:n.66+17990_66+17991insAACACA
ENST00000462366.1:n.346+17990_346+17991insAACACA
ENST00000616279.4:c.-1732+17990_-1732+17991insAACACA	ENSP00000481789.1:n.-1732+17990_-1732+17991insAACACA
NM_004850.3:c.324+17990_324+17991insAACACA	NP_004841.2:n.324+17990_324+17991insAACACA
XM_005246190.3:c.324+17990_324+17991insAACACA	XP_005246247.1:n.324+17990_324+17991insAACACA
XM_011510417.1:c.66+17990_66+17991insAACACA	XP_011508719.1:n.66+17990_66+17991insAACACA
NM_001321643.1:c.66+17990_66+17991insAACACA	NP_001308572.1:n.66+17990_66+17991insAACACA
NM_004850.4:c.324+17990_324+17991insAACACA	NP_004841.2:n.324+17990_324+17991insAACACA
XM_011510417.2:c.66+17990_66+17991insAACACA	XP_011508719.1:n.66+17990_66+17991insAACACA
XM_017005378.2:c.324+17990_324+17991insAACACA	XP_016860867.1:n.324+17990_324+17991insAACACA
XM_017005379.2:c.66+17990_66+17991insAACACA	XP_016860868.1:n.66+17990_66+17991insAACACA
NM_004850.5:c.324+17990_324+17991insAACACA MANE Select	NP_004841.2:n.324+17990_324+17991insAACACA
NM_001321643.2:c.66+17990_66+17991insAACACA	NP_001308572.1:n.66+17990_66+17991insAACACA