Canonical Allele Identifier: CA2879748

Gene: SLC34A2

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.25674321G>C , CM000666.2:g.25674321G>C	GRCh38
NC_000004.11:g.25675943G>C , CM000666.1:g.25675943G>C	GRCh37
NC_000004.10:g.25285041G>C	NCBI36
NG_021185.1:g.23509G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006424.3:c.1242G>C MANE Select	NP_006415.3:p.Leu414Phe
ENST00000382051.8:c.1242G>C MANE Select	ENSP00000371483.3:p.Leu414Phe
NM_001177998.1:c.1239G>C	NP_001171469.1:p.Leu413Phe
NM_001177998.2:c.1239G>C	NP_001171469.2:p.Leu413Phe
NM_001177999.1:c.1239G>C	NP_001171470.1:p.Leu413Phe
NM_001177999.2:c.1239G>C	NP_001171470.2:p.Leu413Phe
NM_006424.2:c.1242G>C	NP_006415.2:p.Leu414Phe
ENST00000382051.7:c.1242G>C	ENSP00000371483.3:p.Leu414Phe
ENST00000503434.5:c.1239G>C	ENSP00000423021.1:p.Leu413Phe
ENST00000504570.5:c.1239G>C	ENSP00000425501.1:p.Leu413Phe
ENST00000645788.1:c.1239G>C	ENSP00000494094.1:p.Leu413Phe