Canonical Allele Identifier: CA130121956
Gene: HAVCR2 HGNC NCBI

Linked Data

dbSNP Id: rs1026179747
gnomAD v2: 5-156536303-C-T
gnomAD v3: 5-157109292-C-T
gnomAD v4: 5-157109292-C-T
COSMIC: COSN6584321
MyVariant Identifiers: chr5:g.156536303C>T (hg19) chr5:g.157109292C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.157109292C>T , CM000667.2:g.157109292C>T GRCh38
NC_000005.9:g.156536303C>T , CM000667.1:g.156536303C>T GRCh37
NC_000005.8:g.156468881C>T NCBI36
NG_030444.1:g.4946G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524219.2:c.-293-2330G>A ENSP00000430328.2:n.-293-2330G>A
ENST00000696899.1:c.-264-45G>A ENSP00000512960.1:n.-264-45G>A
ENST00000696901.1:c.-309G>A ENSP00000512962.1:n.-309G>A
ENST00000307851.8:c.-309G>A ENSP00000312002.4:n.-309G>A
ENST00000524219.1:c.-293-2330G>A ENSP00000430328.1:n.-293-2330G>A
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