Canonical Allele Identifier: CA357404654

Linked Data

dbSNP Id: rs1375744924
gnomAD v2: 4-79832882-C-T
gnomAD v3: 4-78911728-C-T
gnomAD v4: 4-78911728-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.78911728C>T , CM000666.2:g.78911728C>T GRCh38
NC_000004.11:g.79832882C>T , CM000666.1:g.79832882C>T GRCh37
NC_000004.10:g.80051906C>T NCBI36
NG_047162.1:g.140351C>T
NG_053104.1:g.32711G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502613.3:c.3181C>T (BMP2K) MANE Select ENSP00000424668.2:p.Pro1061Ser
ENST00000335016.9:c.3181C>T (BMP2K) ENSP00000334836.5:p.Pro1061Ser
ENST00000342820.10:c.*782+3482G>A (PAQR3) ENSP00000344203.6:n.*782+3482G>A
ENST00000502613.1:c.2258C>T (BMP2K)
ENST00000511594.5:c.*461G>A (PAQR3) ENSP00000425080.1:n.*461G>A
ENST00000512760.5:c.*792+3482G>A (PAQR3) ENSP00000426875.1:n.*792+3482G>A
ENST00000628286.1:c.*2157C>T (BMP2K) ENSP00000487317.1:n.*2157C>T
NM_198892.1:c.3181C>T (BMP2K) NP_942595.1:p.Pro1061Ser
XM_005263117.1:c.3070C>T (BMP2K) XP_005263174.1:p.Pro1024Ser
XM_011532101.1:c.2941C>T (BMP2K) XP_011530403.1:p.Pro981Ser
XR_938694.1:n.1118-5567G>A (PAQR3)
XM_017008381.1:c.2941C>T (BMP2K) XP_016863870.1:p.Pro981Ser
XM_017008382.1:c.2293C>T (BMP2K) XP_016863871.1:p.Pro765Ser
XR_938694.3:n.1098-5567G>A (PAQR3)
NM_198892.2:c.3181C>T (BMP2K) MANE Select NP_942595.1:p.Pro1061Ser