Canonical Allele Identifier: CA625718339

Gene: ASIC2

Linked Data

• dbSNP Id: rs1372228181
• gnomAD v2: 17-31393684-C-G
• gnomAD v3: 17-33066666-C-G
• gnomAD v4: 17-33066666-C-G
• MyVariant Identifiers: chr17:g.31393684C>G (hg19) ; chr17:g.33066666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.33066666C>G , CM000679.2:g.33066666C>G	GRCh38
NC_000017.10:g.31393684C>G , CM000679.1:g.31393684C>G	GRCh37
NC_000017.9:g.28417797C>G	NCBI36
NG_029763.1:g.1095142G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225823.7:c.987+22197G>C MANE Select	ENSP00000225823.2:n.987+22197G>C
ENST00000225823.6:c.987+22197G>C	ENSP00000225823.2:n.987+22197G>C
ENST00000359872.6:c.834+22197G>C	ENSP00000352934.6:n.834+22197G>C
ENST00000448983.1:n.392+22197G>C
NM_001094.4:c.834+22197G>C	NP_001085.2:n.834+22197G>C
NM_183377.1:c.987+22197G>C	NP_899233.1:n.987+22197G>C
NM_001094.5:c.834+22197G>C	NP_001085.2:n.834+22197G>C
NM_183377.2:c.987+22197G>C MANE Select	NP_899233.1:n.987+22197G>C