Canonical Allele Identifier: CA15479312
Gene: TFAP2B HGNC NCBI

Linked Data

dbSNP Id: rs2206277
gnomAD v2: 6-50798526-C-T
gnomAD v3: 6-50830813-C-T
gnomAD v4: 6-50830813-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.50830813C>T , CM000668.2:g.50830813C>T GRCh38
NC_000006.11:g.50798526C>T , CM000668.1:g.50798526C>T GRCh37
NC_000006.10:g.50906485C>T NCBI36
NG_008438.1:g.17088C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000393655.4:c.601+2134C>T MANE Select ENSP00000377265.2:n.601+2134C>T
ENST00000393655.3:c.601+2134C>T ENSP00000377265.2:n.601+2134C>T
NM_003221.3:c.601+2134C>T NP_003212.2:n.601+2134C>T
XM_006715176.2:c.601+2134C>T XP_006715239.1:n.601+2134C>T
XM_006715177.2:c.547+2134C>T XP_006715240.1:n.547+2134C>T
XM_011514834.1:c.628+2134C>T XP_011513136.1:n.628+2134C>T
XM_011514835.1:c.628+2134C>T XP_011513137.1:n.628+2134C>T
XM_011514836.1:c.628+2134C>T XP_011513138.1:n.628+2134C>T
XM_011514837.1:c.628+2134C>T XP_011513139.1:n.628+2134C>T
XM_011514837.2:c.628+2134C>T XP_011513139.1:n.628+2134C>T
XM_017011233.1:c.766+2134C>T XP_016866722.1:n.766+2134C>T
XM_017011234.1:c.730+2134C>T XP_016866723.1:n.730+2134C>T
XM_017011235.2:c.142+2134C>T XP_016866724.1:n.142+2134C>T
NM_003221.4:c.601+2134C>T MANE Select NP_003212.2:n.601+2134C>T