Canonical Allele Identifier: CA390517750

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753142T>A (hg19) ; chr14:g.77286799T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286799T>A , CM000676.2:g.77286799T>A	GRCh38
NC_000014.8:g.77753142T>A , CM000676.1:g.77753142T>A	GRCh37
NC_000014.7:g.76822895T>A	NCBI36
NG_008897.1:g.39084A>T , LRG_844:g.39084A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.818A>T	ENSP00000451967.2:p.His273Leu
ENST00000682247.1:c.1277A>T	ENSP00000507213.1:p.His426Leu
ENST00000682382.1:c.849A>T
ENST00000682395.1:n.1455A>T
ENST00000682459.1:n.980A>T
ENST00000682467.1:c.1277A>T	ENSP00000508062.1:p.His426Leu
ENST00000682706.1:n.54A>T
ENST00000682795.1:c.1277A>T	ENSP00000507574.1:p.His426Leu
ENST00000682895.1:n.993A>T
ENST00000682955.1:n.565A>T
ENST00000683188.1:c.1252A>T
ENST00000683328.1:c.270A>T	ENSP00000508096.1:n.270A>T
ENST00000683380.1:n.941A>T
ENST00000683828.1:c.986A>T
ENST00000684259.1:n.1128A>T
ENST00000684444.1:c.24A>T
ENST00000684549.1:n.828A>T
ENST00000261534.9:c.1277A>T MANE Select	ENSP00000261534.4:p.His426Leu
ENST00000261534.8:c.1277A>T	ENSP00000261534.4:p.His426Leu
ENST00000452340.7:n.1300A>T
ENST00000553880.5:n.148A>T
ENST00000554767.5:n.2063A>T
ENST00000554884.5:n.269A>T
ENST00000556404.1:n.411A>T
ENST00000556851.1:n.313A>T
ENST00000557675.5:n.367A>T
NM_013382.5:c.1277A>T , LRG_844t1:c.1277A>T	NP_037514.2:p.His426Leu
XM_011536675.1:c.1277A>T	XP_011534977.1:p.His426Leu
XM_011536676.1:c.944A>T	XP_011534978.1:p.His315Leu
XM_011536677.1:c.818A>T	XP_011534979.1:p.His273Leu
XM_011536678.1:c.1277A>T	XP_011534980.1:p.His426Leu
XM_011536679.1:c.371A>T	XP_011534981.1:p.His124Leu
XR_943416.1:n.1480A>T
XM_011536675.2:c.1277A>T	XP_011534977.1:p.His426Leu
XM_011536676.2:c.944A>T	XP_011534978.1:p.His315Leu
XM_011536677.3:c.818A>T	XP_011534979.1:p.His273Leu
XR_001750279.1:n.1477A>T
XR_001750282.1:n.1930A>T
XR_943416.3:n.1478A>T
NM_013382.6:c.1277A>T	NP_037514.2:p.His426Leu
NM_013382.7:c.1277A>T MANE Select	NP_037514.2:p.His426Leu