Canonical Allele Identifier: CA8712812

Gene: POLG2 MILR1

Linked Data

• ClinVar Variation Id: 260154
• ClinVar RCV Id: RCV000251111 ; RCV000341060 ; RCV000676622 ; RCV001789301 ; RCV001789300 ; RCV001789302 ; RCV002487132
• dbSNP Id: rs60611997
• ExAC: 17:62479028 T / TA
• gnomAD v2: 17-62479028-T-TA
• gnomAD v3: 17-64482911-T-TA
• gnomAD v4: 17-64482911-T-TA
• MyVariant Identifiers: chr17:g.62479029dupA (hg19) ; chr17:g.62479030_62479031insA (hg19) ; chr17:g.62479028_62479029insA (hg19) ; chr17:g.64482912dupA (hg38) ; chr17:g.64482913_64482914insA (hg38) ; chr17:g.64482911_64482912insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.64482913dup , CM000679.2:g.64482913dup	GRCh38
NC_000017.10:g.62479030dup , CM000679.1:g.62479030dup	GRCh37
NC_000017.9:g.59909492dup	NCBI36
NG_013029.1:g.19156dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539111.7:c.1191+7dup (POLG2) MANE Select	ENSP00000442563.2:n.1191+7dup
ENST00000585104.2:n.1162+7dup (POLG2)
ENST00000671755.1:c.1279+7dup (POLG2)
ENST00000673460.1:c.3309+7dup (POLG2)
ENST00000539111.6:c.1191+7dup (POLG2)	ENSP00000442563.2:n.1191+7dup
ENST00000577506.5:n.371+7dup (POLG2)
ENST00000580490.1:n.267+1052dup (POLG2)
ENST00000581355.1:c.450+7dup (POLG2)	ENSP00000462071.1:n.450+7dup
ENST00000582501.5:n.799+7dup (POLG2)
ENST00000585104.1:n.148+7dup (POLG2)
NM_007215.3:c.1191+7dup (POLG2)	NP_009146.2:n.1191+7dup
XR_243630.1:n.1242+7dup (POLG2)
XR_934357.1:n.3006+7dup (POLG2)
XM_024450706.1:c.*29-9372dup (MILR1)	XP_024306474.1:n.*29-9372dup
XM_024450708.1:c.*29-13408dup (MILR1)	XP_024306476.1:n.*29-13408dup
XR_002957989.1:n.1208-9372dup (MILR1)
XR_002957990.1:n.1208-9372dup (MILR1)
NM_007215.4:c.1191+7dup (POLG2) MANE Select	NP_009146.2:n.1191+7dup