Canonical Allele Identifier: CA104049952

Gene: PITX2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.110641907A>G , CM000666.2:g.110641907A>G	GRCh38
NC_000004.11:g.111563063A>G , CM000666.1:g.111563063A>G	GRCh37
NC_000004.10:g.111782512A>G	NCBI36
NG_007120.1:g.446T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001204397.1:c.-1619+12T>C	NP_001191326.1:n.-1619+12T>C
NM_001204398.1:c.-11+12T>C	NP_001191327.1:n.-11+12T>C
NM_001204399.1:c.-11+12T>C	NP_001191328.1:n.-11+12T>C
NM_153426.2:c.-1385+12T>C	NP_700475.1:n.-1385+12T>C
NM_153427.2:c.-1385+12T>C	NP_700476.1:n.-1385+12T>C
ENST00000354925.6:c.-1619+12T>C	ENSP00000347004.2:n.-1619+12T>C
ENST00000511837.5:c.-11+12T>C	ENSP00000421454.1:n.-11+12T>C
ENST00000511990.1:c.-11+12T>C	ENSP00000424142.1:n.-11+12T>C
ENST00000613094.4:c.-1385+12T>C	ENSP00000484763.1:n.-1385+12T>C
ENST00000614423.4:c.-11+12T>C	ENSP00000481951.1:n.-11+12T>C
ENST00000616641.4:c.-1385+12T>C	ENSP00000484909.1:n.-1385+12T>C