Canonical Allele Identifier: CA371645358

Gene: GRHL2

Linked Data

• MyVariant Identifiers: chr8:g.102611321T>C (hg19) ; chr8:g.101599093T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.101599093T>C , CM000670.2:g.101599093T>C	GRCh38
NC_000008.10:g.102611321T>C , CM000670.1:g.102611321T>C	GRCh37
NC_000008.9:g.102680497T>C	NCBI36
NG_011971.1:g.111654T>C
NG_011971.2:g.111654T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646743.1:c.1040T>C MANE Select	ENSP00000495564.1:p.Ile347Thr
ENST00000251808.7:c.1040T>C	ENSP00000251808.3:p.Ile347Thr
ENST00000395927.1:c.992T>C	ENSP00000379260.1:p.Ile331Thr
NM_024915.3:c.1040T>C	NP_079191.2:p.Ile347Thr
XM_011517305.1:c.992T>C	XP_011515607.1:p.Ile331Thr
XM_011517306.1:c.992T>C	XP_011515608.1:p.Ile331Thr
XM_011517307.1:c.1040T>C	XP_011515609.1:p.Ile347Thr
NM_001330593.1:c.992T>C	NP_001317522.1:p.Ile331Thr
XM_011517306.3:c.992T>C	XP_011515608.1:p.Ile331Thr
XM_011517307.3:c.1040T>C	XP_011515609.1:p.Ile347Thr
NM_001330593.2:c.992T>C	NP_001317522.1:p.Ile331Thr
NM_024915.4:c.1040T>C MANE Select	NP_079191.2:p.Ile347Thr