Canonical Allele Identifier: CA43254737
Gene:

Linked Data

dbSNP Id: rs561360006
gnomAD v2: 2-16639509-T-C
gnomAD v3: 2-16458241-T-C
gnomAD v4: 2-16458241-T-C
MyVariant Identifiers: chr2:g.16639509T>C (hg19) chr2:g.16639509_16639526delinsCCTCTCAGCTTCAAAAAG (hg19) chr2:g.16458241T>C (hg38) chr2:g.16458241_16458258delinsCCTCTCAGCTTCAAAAAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.16458241T>C , CM000664.2:g.16458241T>C GRCh38
NC_000002.11:g.16639509T>C , CM000664.1:g.16639509T>C GRCh37
NC_000002.10:g.16502990T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939752.1:n.396-3147A>G
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