Canonical Allele Identifier: CA535782209

Gene:

Linked Data

• dbSNP Id: rs1190192708
• gnomAD v2: 2-123126833-G-A
• gnomAD v3: 2-122369257-G-A
• gnomAD v4: 2-122369257-G-A
• MyVariant Identifiers: chr2:g.123126833G>A (hg19) ; chr2:g.122369257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122369257G>A , CM000664.2:g.122369257G>A	GRCh38
NC_000002.11:g.123126833G>A , CM000664.1:g.123126833G>A	GRCh37
NC_000002.10:g.122843303G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-23706G>A
XR_001739684.1:n.556-23706G>A