Canonical Allele Identifier: CA537510238

Gene: GRB14

Linked Data

• dbSNP Id: rs8192673
• gnomAD v2: 2-165353712-C-A
• gnomAD v4: 2-164497202-C-A
• MyVariant Identifiers: chr2:g.165353712C>A (hg19) ; chr2:g.164497202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.164497202C>A , CM000664.2:g.164497202C>A	GRCh38
NC_000002.11:g.165353712C>A , CM000664.1:g.165353712C>A	GRCh37
NC_000002.10:g.165061958C>A	NCBI36
NG_052839.1:g.129649G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696453.2:c.1033+9G>T	ENSP00000512640.1:n.1033+9G>T
ENST00000263915.8:c.1294+9G>T MANE Select	ENSP00000263915.3:n.1294+9G>T
ENST00000263915.7:c.1294+9G>T	ENSP00000263915.3:n.1294+9G>T
ENST00000446413.6:c.1159+9G>T	ENSP00000416786.2:n.1159+9G>T
ENST00000488342.5:n.1430+9G>T
NM_001303422.1:c.1033+9G>T	NP_001290351.1:n.1033+9G>T
NM_004490.2:c.1294+9G>T	NP_004481.2:n.1294+9G>T
XM_006712457.2:c.694+9G>T	XP_006712520.1:n.694+9G>T
XM_017003899.1:c.694+9G>T	XP_016859388.1:n.694+9G>T
XM_024452815.1:c.1072+9G>T	XP_024308583.1:n.1072+9G>T
XM_024452816.1:c.1072+9G>T	XP_024308584.1:n.1072+9G>T
NM_001303422.2:c.1033+9G>T	NP_001290351.1:n.1033+9G>T
NM_004490.3:c.1294+9G>T MANE Select	NP_004481.2:n.1294+9G>T