Canonical Allele Identifier: CA7285579

Gene: POMT2

Linked Data

• ClinVar Variation Id: 972468
• ClinVar RCV Id: RCV001248506 ; RCV003128769 ; RCV001331802 ; RCV002568686
• dbSNP Id: rs200690151
• ExAC: 14:77745126 C / A
• gnomAD v2: 14-77745126-C-A
• gnomAD v3: 14-77278783-C-A
• gnomAD v4: 14-77278783-C-A
• MyVariant Identifiers: chr14:g.77745126C>A (hg19) ; chr14:g.77278783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278783C>A , CM000676.2:g.77278783C>A	GRCh38
NC_000014.8:g.77745126C>A , CM000676.1:g.77745126C>A	GRCh37
NC_000014.7:g.76814879C>A	NCBI36
NG_008897.1:g.47100G>T , LRG_844:g.47100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.903G>T
ENST00000556394.2:c.1519G>T	ENSP00000451967.2:p.Val507Phe
ENST00000682128.1:c.279G>T	ENSP00000506976.1:n.279G>T
ENST00000682247.1:c.1967G>T	ENSP00000507213.1:p.Gly656Val
ENST00000682395.1:n.2442G>T
ENST00000682459.1:n.1681G>T
ENST00000682467.1:c.1892-275G>T	ENSP00000508062.1:n.1892-275G>T
ENST00000682615.1:n.332G>T
ENST00000682795.1:c.2125G>T	ENSP00000507574.1:p.Val709Phe
ENST00000682895.1:n.1694G>T
ENST00000682955.1:n.1552G>T
ENST00000683095.1:c.384G>T	ENSP00000508040.1:n.384G>T
ENST00000683188.1:c.2239G>T
ENST00000683380.1:n.1642G>T
ENST00000683907.1:c.243G>T	ENSP00000507754.1:n.243G>T
ENST00000684172.1:c.354G>T	ENSP00000508391.1:n.354G>T
ENST00000684259.1:n.3745G>T
ENST00000684538.1:n.1357G>T
ENST00000684549.1:n.1529G>T
ENST00000261534.9:c.1978G>T MANE Select	ENSP00000261534.4:p.Val660Phe
ENST00000261534.8:c.1978G>T	ENSP00000261534.4:p.Val660Phe
ENST00000452340.7:n.2954G>T
ENST00000554767.5:n.2764G>T
ENST00000555710.1:c.339G>T	ENSP00000451730.1:n.339G>T
ENST00000556171.1:c.570G>T
ENST00000556394.1:c.88-275G>T
ENST00000556446.1:n.279G>T
ENST00000602717.5:c.193G>T	ENSP00000487704.1:p.Val65Phe
NM_013382.5:c.1978G>T , LRG_844t1:c.1978G>T	NP_037514.2:p.Val660Phe
XM_011536675.1:c.2167G>T	XP_011534977.1:p.Val723Phe
XM_011536676.1:c.1834G>T	XP_011534978.1:p.Val612Phe
XM_011536677.1:c.1708G>T	XP_011534979.1:p.Val570Phe
XM_011536679.1:c.1261G>T	XP_011534981.1:p.Val421Phe
XR_943416.1:n.2231G>T
XM_011536675.2:c.2167G>T	XP_011534977.1:p.Val723Phe
XM_011536676.2:c.1834G>T	XP_011534978.1:p.Val612Phe
XM_011536677.3:c.1708G>T	XP_011534979.1:p.Val570Phe
XR_001750279.1:n.2264G>T
XR_001750282.1:n.2917G>T
XR_943416.3:n.2229G>T
NM_013382.6:c.1978G>T	NP_037514.2:p.Val660Phe
NM_013382.7:c.1978G>T MANE Select	NP_037514.2:p.Val660Phe