Canonical Allele Identifier: CA6904231

Gene: GJB2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20188997C>G , CM000675.2:g.20188997C>G	GRCh38
NC_000013.10:g.20763136C>G , CM000675.1:g.20763136C>G	GRCh37
NC_000013.9:g.19661136C>G	NCBI36
NG_008358.1:g.8979G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004004.6:c.585G>C MANE Select	NP_003995.2:p.Met195Ile
ENST00000382848.5:c.585G>C MANE Select	ENSP00000372299.4:p.Met195Ile
NM_004004.5:c.585G>C	NP_003995.2:p.Met195Ile
ENST00000382844.1:c.585G>C	ENSP00000372295.1:p.Met195Ile
ENST00000382844.2:c.585G>C	ENSP00000372295.1:p.Met195Ile
ENST00000382848.4:c.585G>C	ENSP00000372299.4:p.Met195Ile
XM_011535049.1:c.585G>C	XP_011533351.1:p.Met195Ile
XM_011535049.2:c.585G>C	XP_011533351.1:p.Met195Ile