Canonical Allele Identifier: CA2768640638
Gene: HBEGF HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.140333487C>T , CM000667.2:g.140333487C>T GRCh38
NC_000005.9:g.139713072C>T , CM000667.1:g.139713072C>T GRCh37
NC_000005.8:g.139693256C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000230990.7:c.*812G>A MANE Select ENSP00000230990.6:n.*812G>A
ENST00000230990.6:c.*812G>A ENSP00000230990.6:n.*812G>A
NM_001945.2:c.*812G>A NP_001936.1:n.*812G>A
NM_001945.3:c.*812G>A MANE Select NP_001936.1:n.*812G>A
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