Canonical Allele Identifier: CA11351591
Gene: MKRN2 HGNC NCBI

Linked Data

dbSNP Id: rs713178
gnomAD v2: 3-12615984-T-C
gnomAD v3: 3-12574485-T-C
gnomAD v4: 3-12574485-T-C
MyVariant Identifiers: chr3:g.12615984T>C (hg19) chr3:g.12574485T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.12574485T>C , CM000665.2:g.12574485T>C GRCh38
NC_000003.11:g.12615984T>C , CM000665.1:g.12615984T>C GRCh37
NC_000003.10:g.12590984T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000170447.12:c.643-307T>C MANE Select ENSP00000170447.7:n.643-307T>C
ENST00000676541.1:c.625-307T>C ENSP00000503730.1:n.625-307T>C
ENST00000676544.1:n.737-307T>C
ENST00000676701.1:c.*539-307T>C ENSP00000503305.1:n.*539-307T>C
ENST00000677142.1:c.676-307T>C ENSP00000504455.1:n.676-307T>C
ENST00000677237.1:n.737-307T>C
ENST00000677798.1:c.100-307T>C ENSP00000503754.1:n.100-307T>C
ENST00000677816.1:c.643-307T>C ENSP00000502893.1:n.643-307T>C
ENST00000677941.1:n.737-307T>C
ENST00000679143.1:c.*266-307T>C ENSP00000504009.1:n.*266-307T>C
ENST00000170447.11:c.643-307T>C ENSP00000170447.7:n.643-307T>C
ENST00000411987.5:c.514-307T>C ENSP00000396340.1:n.514-307T>C
ENST00000448482.1:c.637-307T>C ENSP00000397983.1:n.637-307T>C
NM_001271707.1:c.514-307T>C NP_001258636.1:n.514-307T>C
NM_014160.4:c.643-307T>C NP_054879.3:n.643-307T>C
NM_014160.5:c.643-307T>C MANE Select NP_054879.3:n.643-307T>C
NM_001271707.2:c.514-307T>C NP_001258636.1:n.514-307T>C
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