Canonical Allele Identifier: CA816513648

Gene: TFAP2A

Linked Data

• dbSNP Id: rs1389468176
• gnomAD v4: 6-10404360-T-C
• MyVariant Identifiers: chr6:g.10404593T>C (hg19) ; chr6:g.10404360T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.10404360T>C , CM000668.2:g.10404360T>C	GRCh38
NC_000006.11:g.10404593T>C , CM000668.1:g.10404593T>C	GRCh37
NC_000006.10:g.10512579T>C	NCBI36
NG_016151.1:g.20205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379608.9:c.746+148A>G	ENSP00000368928.3:n.746+148A>G
ENST00000379613.10:c.770+148A>G MANE Select	ENSP00000368933.5:n.770+148A>G
ENST00000482890.6:c.770+148A>G	ENSP00000418541.2:n.770+148A>G
ENST00000488193.7:c.*261+148A>G	ENSP00000419823.3:n.*261+148A>G
ENST00000498450.3:c.335+148A>G	ENSP00000419961.3:n.335+148A>G
ENST00000319516.8:c.752+148A>G	ENSP00000316516.4:n.752+148A>G
ENST00000379608.7:c.746+148A>G	ENSP00000368928.3:n.746+148A>G
ENST00000379613.7:c.770+148A>G	ENSP00000368933.3:n.770+148A>G
ENST00000461628.5:c.87+148A>G
ENST00000466073.5:c.764+148A>G	ENSP00000417495.1:n.764+148A>G
ENST00000475264.5:c.478+148A>G
ENST00000478375.5:n.764+148A>G
ENST00000482890.5:c.764+148A>G	ENSP00000418541.1:n.764+148A>G
ENST00000488193.5:c.*261+148A>G	ENSP00000419823.1:n.*261+148A>G
ENST00000489805.5:c.*261+148A>G	ENSP00000420568.1:n.*261+148A>G
ENST00000497266.5:n.735+148A>G
ENST00000498450.1:c.335+148A>G	ENSP00000419961.1:n.335+148A>G
NM_001032280.2:c.746+148A>G	NP_001027451.1:n.746+148A>G
NM_001042425.1:c.752+148A>G	NP_001035890.1:n.752+148A>G
NM_003220.2:c.764+148A>G	NP_003211.1:n.764+148A>G
XM_006715175.2:c.899+148A>G	XP_006715238.1:n.899+148A>G
XM_011514833.1:c.614+148A>G	XP_011513135.1:n.614+148A>G
XM_011514833.2:c.614+148A>G	XP_011513135.1:n.614+148A>G
XM_017011232.1:c.1010+148A>G	XP_016866721.1:n.1010+148A>G
NM_003220.3:c.764+148A>G	NP_003211.1:n.764+148A>G
NM_001032280.3:c.746+148A>G	NP_001027451.1:n.746+148A>G
NM_001042425.2:c.752+148A>G	NP_001035890.1:n.752+148A>G
NM_001372066.1:c.770+148A>G MANE Select	NP_001358995.1:n.770+148A>G
NM_001042425.3:c.752+148A>G	NP_001035890.1:n.752+148A>G