Canonical Allele Identifier: CA535757845

Gene:

Linked Data

• dbSNP Id: rs1365102664
• gnomAD v2: 2-121089463-G-C
• MyVariant Identifiers: chr2:g.121089463G>C (hg19) ; chr2:g.120331887G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.120331887G>C , CM000664.2:g.120331887G>C	GRCh38
NC_000002.11:g.121089463G>C , CM000664.1:g.121089463G>C	GRCh37
NC_000002.10:g.120805933G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XM_011512307.1:c.141+3081G>C	XP_011510609.1:n.141+3081G>C