Canonical Allele Identifier: CA41419418

Gene:

Linked Data

• dbSNP Id: rs988795696
• gnomAD v2: 2-1557844-C-T
• gnomAD v3: 2-1554072-C-T
• gnomAD v4: 2-1554072-C-T
• MyVariant Identifiers: chr2:g.1557844C>T (hg19) ; chr2:g.1554072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.1554072C>T , CM000664.2:g.1554072C>T	GRCh38
NC_000002.11:g.1557844C>T , CM000664.1:g.1557844C>T	GRCh37
NC_000002.10:g.1536851C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011510447.1:c.-1101C>T	XP_011508749.1:n.-1101C>T
XM_011510448.1:c.-1101C>T	XP_011508750.1:n.-1101C>T
XR_922720.1:n.85+2426G>A
XM_017005455.1:c.-1101C>T	XP_016860944.1:n.-1101C>T
NR_168373.1:n.746-98C>T