Canonical Allele Identifier: CA371591699

Gene: GRHL2

Linked Data

• ClinVar Variation Id: 2606938
• ClinVar RCV Id: RCV003369381
• MyVariant Identifiers: chr8:g.102656364G>C (hg19) ; chr8:g.101644136G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101644136G>C , CM000670.2:g.101644136G>C	GRCh38
NC_000008.10:g.102656364G>C , CM000670.1:g.102656364G>C	GRCh37
NC_000008.9:g.102725540G>C	NCBI36
NG_011971.1:g.156697G>C
NG_011971.2:g.156697G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1523G>C MANE Select	ENSP00000495564.1:p.Ser508Thr
ENST00000251808.7:c.1523G>C	ENSP00000251808.3:p.Ser508Thr
ENST00000395927.1:c.1475G>C	ENSP00000379260.1:p.Ser492Thr
ENST00000474338.1:n.165G>C
ENST00000517674.5:n.178G>C
NM_024915.3:c.1523G>C	NP_079191.2:p.Ser508Thr
XM_011517305.1:c.1475G>C	XP_011515607.1:p.Ser492Thr
XM_011517306.1:c.1475G>C	XP_011515608.1:p.Ser492Thr
XM_011517307.1:c.1523G>C	XP_011515609.1:p.Ser508Thr
NM_001330593.1:c.1475G>C	NP_001317522.1:p.Ser492Thr
XM_011517306.3:c.1475G>C	XP_011515608.1:p.Ser492Thr
XM_011517307.3:c.1523G>C	XP_011515609.1:p.Ser508Thr
NM_001330593.2:c.1475G>C	NP_001317522.1:p.Ser492Thr
NM_024915.4:c.1523G>C MANE Select	NP_079191.2:p.Ser508Thr