Canonical Allele Identifier: CA756010205

Gene:

Linked Data

• dbSNP Id: rs1310757217
• gnomAD v3: 2-120551965-GTGGGTGCCCTACTC-G
• gnomAD v4: 2-120551965-GTGGGTGCCCTACTC-G
• MyVariant Identifiers: chr2:g.121309542_121309555del (hg19) ; chr2:g.120551966_120551979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120551968_120551981del , CM000664.2:g.120551968_120551981del	GRCh38
NC_000002.11:g.121309544_121309557del , CM000664.1:g.121309544_121309557del	GRCh37
NC_000002.10:g.121026014_121026027del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923262.1:n.1396_1409del
XR_001739680.2:n.1404_1417del
XR_001739681.2:n.2037_2050del
XR_001739682.1:n.1404_1417del
XR_002959417.1:n.1404_1417del